CleftGeneDB-Search

Gene: OPA1

Basic information

Tag	Content
Uniprot ID	O60313; D3DNW4; E5KLJ5; E5KLJ6; E5KLJ7; E5KLK1; E5KLK2;
Entrez ID	4976
Genbank protein ID	ADP90247.1; ADP90113.1; ADP90359.1; ADP90054.1; EAW78066.1; ADP90069.1; ADP90109.1; ADP90288.1; ADP90316.1; ADP90103.1; ADP90333.1; ADP90240.1; ADP90111.1; ADP90096.1; ADP90329.1; ADP90368.1; ADP90272.1; ADP90320.1; ADP90140.1; ADP90188.1; ADP90289.1; ADP90121.1; ADP90262.1; ADP90241.1; ADP90311.1; ADP90268.1; ADP90068.1; EAW78065.1; ADP90209.1; ADP90273.1; ADP90220.1; ADP90265.1; ADP90084.1; ADP90236.1; ADP90344.1; ADP90092.1; ADP90200.1; ADP90110.1; ADP90308.1; ADP90297.1; ADP90141.1; ADP90118.1; ADP90293.1; ADP90063.1; ADP90309.1; ADP90249.1; ADP90201.1; ADP90294.1; ADP90286.1; ADP90356.1; ADP90062.1; ADP90228.1; ADP90352.1; ADP90190.1; ADP90180.1; ADP90117.1; ADP90120.1; ADP90183.1; ADP90244.1; ADP90360.1; ADP90337.1; ADP90280.1; ADP90169.1; ADP90184.1; ADP90351.1; ADP90088.1; ADP90224.1; ADP90143.1; ADP90150.1; ADP90166.1; ADP90295.1; ADP90116.1; ADP90332.1; ADP90350.1; ADP90285.1; ADP90132.1; ADP90252.1; ADP90349.1; ADP90287.1; ADP90341.1; ADP90125.1; ADP90284.1; BAA25493.1; ADP90225.1; ADP90216.1; ADP90328.1; ADP90300.1; ADP90325.1; ADP90345.1; ADP90105.1; ADP90353.1; ADP90173.1; ADP90263.1; ADP90334.1; ADP90343.1; ADP90174.1; ADP90238.1; ADP90245.1; ADP90321.1; ADP90277.1; ADP90364.1; ADP90168.1; ADP90269.1; ADP90223.1; ADP90310.1; ADP90281.1; ADP90065.1; ADP90148.1; ADP90366.1; ADP90124.1; ADP90212.1; ADP90172.1; ADP90175.1; ADP90340.1; ADP90205.1; ADP90165.1; ADP90087.1; ADP90260.1; ADP90292.1; ADP90213.1; ADP90199.1; ADP90064.1; ADP90055.1; ADP90072.1; ADP90189.1; ADP90372.1; ADP90077.1; ADP90327.1; ADP90142.1; ADP90278.1; ADP90336.1; ADP90317.1; ADP90261.1; ADP90153.1; ADP90185.1; ADP90181.1; ADP90357.1; ADP90102.1; ADP90112.1; ADP90145.1; ADP90076.1; ADP90164.1; ADP90193.1; ADP90207.1; ADP90095.1; ADP90191.1; ADP90222.1; ADP90276.1; ADP90324.1; ADP90373.1; ADP90061.1; ADP90214.1; ADP90326.1; ADP90177.1; ADP90358.1; ADP90253.1; ADP90342.1; ADP90239.1; ADP90071.1; ADP90365.1; ADP90192.1; ADP90119.1; ADP90217.1; ADP90229.1; ADP90100.1; ADP90152.1; ADP90301.1; ADP90264.1; ADP90204.1; ADP90156.1; ADP90093.1; ADP90086.1; ADP90089.1; ADP90101.1; ADP90369.1; ADP90348.1; EAW78067.1; ADP90270.1; ADP90215.1; EAW78070.1; ADP90149.1; ADP90279.1; ADP90097.1; ADP90248.1; ADP90073.1; ADP90197.1; EAW78064.1; ADP90237.1; ADP90367.1; ADP90296.1; ADP90246.1; ADP90133.1; ADP90206.1; ADP90335.1; ADP90361.1; ADP90319.1; ADP90108.1; ADP90157.1; ADP90094.1; ADP90208.1; ADP90057.1; ADP90312.1; AAH75805.1; ADP90151.1; ADP90144.1; ADP90070.1; ADP90196.1; ADP90060.1; EAW78071.1; ADP90198.1; ADP90271.1; ADP90104.1; ADP90176.1; EAW78069.1; ADP90056.1; ADP90085.1; ADP90182.1; ADP90313.1; ADP90318.1; ADP90221.1; ADP90167.1;
Genbank nucleotide ID	NM_130831.2; NM_015560.2; NM_130833.2; NM_130834.2; NM_130836.2; NM_130837.2;
Ensembl protein ID	ENSP00000376232; ENSP00000354681; ENSP00000355324; ENSP00000354781; ENSP00000494512; ENSP00000354429;
Ensembl nucleotide ID	ENSG00000198836
Gene name	Dynamin-like 120 kDa protein, mitochondrial
Gene symbol	OPA1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317).
Sequence	MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL QRPQLRTSFQ 60 QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL RYLILGSAVG GGYTAKKTFD 120 QWKDMIPDLS EYKWIVPDIV WEIDEYIDFE KIRKALPSSE DLVKLAPDFD KIVESLSLLK 180 DFFTSGSPEE TAFRATDRGS ESDKHFRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN 240 KELRKLVLQK DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG 300 KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL TKEEDLAALR 360 HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP GVINTVTSGM APDTKETIFS 420 ISKAYMQNPN AIILCIQDGS VDAERSIVTD LVSQMDPHGR RTIFVLTKVD LAEKNVASPS 480 RIQQIIEGKL FPMKALGYFA VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT 540 TRNLSLAVSD CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE 600 ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN TTVDIKLKQW 660 TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL KEAVKEESIK RHKWNDFAED 720 SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE ALQARLKDTE NAIENMVGPD WKKRWLYWKN 780 RTQEQCVHNE TKNELEKMLK CNEEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV 840 YRRHFLKTAL NHCNLCRRGF YYYQRHFVDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN 900 TEVRRLEKNV KEVLEDFAED GEKKIKLLTG KRVQLAEDLK KVREIQEKLD AFIEALHQEK 960

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	OPA1	524142	A0A3Q1LJL3		Bos taurus	Prediction	More>>
1:1 ortholog	OPA1		A0A452EKZ3		Capra hircus	Prediction	More>>
1:1 ortholog	OPA1	100059993	F6Z2C8		Equus caballus	Prediction	More>>
1:1 ortholog	OPA1	4976	O60313		Homo sapiens	Prediction	More>>
1:1 ortholog	Opa1	74143	P58281	CPO	Mus musculus	Publication	More>>
1:1 ortholog	OPA1		A0A2I3RGT4		Pan troglodytes	Prediction	More>>
1:1 ortholog	Opa1	171116	Q2TA68		Rattus norvegicus	Prediction	More>>
1:1 ortholog	opa1	492332	Q5U3A7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1396144821	p.Trp2Leu	missense variant	-	NC_000003.12:g.193593382G>T	gnomAD
rs975168746	p.Arg3Gln	missense variant	-	NC_000003.12:g.193593385G>A	TOPMed
rs1430877916	p.Arg5Cys	missense variant	-	NC_000003.12:g.193593390C>T	gnomAD
RCV000723425	p.Ala8Ser	missense variant	-	NC_000003.12:g.193593399G>T	ClinVar
rs794726939	p.Ala8Ser	missense variant	-	NC_000003.12:g.193593399G>T	-
RCV000173452	p.Ala8Ser	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193593399G>T	ClinVar
rs1310378860	p.Val9Met	missense variant	-	NC_000003.12:g.193593402G>A	gnomAD
rs1374210167	p.Ala10Pro	missense variant	-	NC_000003.12:g.193593405G>C	gnomAD
rs763176048	p.Cys11Arg	missense variant	-	NC_000003.12:g.193593408T>C	ExAC,gnomAD
rs1341753623	p.Cys11Tyr	missense variant	-	NC_000003.12:g.193593409G>A	gnomAD
rs373753869	p.Val13Ile	missense variant	-	NC_000003.12:g.193614727G>A	ESP,ExAC,TOPMed,gnomAD
rs767733553	p.Cys14Tyr	missense variant	-	NC_000003.12:g.193614731G>A	ExAC,gnomAD
rs767733553	p.Cys14Ser	missense variant	-	NC_000003.12:g.193614731G>C	ExAC,gnomAD
rs75414918	p.Gln15Lys	missense variant	-	NC_000003.12:g.193614733C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000295836	p.Gln15Lys	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193614733C>A	ClinVar
rs1230361416	p.Ser16Phe	missense variant	-	NC_000003.12:g.193614737C>T	gnomAD
rs760770105	p.Leu17Ile	missense variant	-	NC_000003.12:g.193614739T>A	ExAC,TOPMed,gnomAD
RCV000523840	p.Leu17Ile	missense variant	-	NC_000003.12:g.193614739T>A	ClinVar
rs1321305109	p.His20Tyr	missense variant	-	NC_000003.12:g.193614748C>T	gnomAD
rs1267545673	p.Ser22Cys	missense variant	-	NC_000003.12:g.193614755C>G	gnomAD
rs1479866542	p.Gly23Val	missense variant	-	NC_000003.12:g.193614758G>T	gnomAD
rs555053360	p.Ile24Lys	missense variant	-	NC_000003.12:g.193614761T>A	1000Genomes,ExAC,gnomAD
rs201520438	p.Ile24Val	missense variant	-	NC_000003.12:g.193614760A>G	ExAC,TOPMed,gnomAD
rs555053360	p.Ile24Thr	missense variant	-	NC_000003.12:g.193614761T>C	1000Genomes,ExAC,gnomAD
RCV000332084	p.Ile24Val	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193614760A>G	ClinVar
RCV000488273	p.Ile24Val	missense variant	-	NC_000003.12:g.193614760A>G	ClinVar
rs1473275837	p.Gly26Glu	missense variant	-	NC_000003.12:g.193614767G>A	gnomAD
rs145565705	p.Pro29Ala	missense variant	-	NC_000003.12:g.193614775C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000594159	p.Pro29Ala	missense variant	-	NC_000003.12:g.193614775C>G	ClinVar
rs758056583	p.Leu30Pro	missense variant	-	NC_000003.12:g.193614779T>C	ExAC,gnomAD
rs746468712	p.His34Tyr	missense variant	-	NC_000003.12:g.193614790C>T	ExAC,gnomAD
rs149756039	p.Ser37Leu	missense variant	-	NC_000003.12:g.193614800C>T	ESP,TOPMed
rs866025924	p.Arg38Gln	missense variant	-	NC_000003.12:g.193614803G>A	TOPMed
VAR_022923	p.Arg38_Ser43del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1282452294	p.Ser39Gly	missense variant	-	NC_000003.12:g.193614805A>G	TOPMed,gnomAD
rs754495559	p.Ile40Met	missense variant	-	NC_000003.12:g.193614810T>G	ExAC,gnomAD
rs145563233	p.His42Asn	missense variant	-	NC_000003.12:g.193614814C>A	ESP,ExAC,TOPMed,gnomAD
rs145563233	p.His42Tyr	missense variant	-	NC_000003.12:g.193614814C>T	ESP,ExAC,TOPMed,gnomAD
rs1315189266	p.Ser43Pro	missense variant	-	NC_000003.12:g.193614817T>C	gnomAD
rs1340467055	p.His44Arg	missense variant	-	NC_000003.12:g.193614821A>G	gnomAD
rs148462105	p.Gln51Arg	missense variant	-	NC_000003.12:g.193614842A>G	ESP,ExAC
rs749115822	p.Arg52Gln	missense variant	-	NC_000003.12:g.193614845G>A	ExAC,TOPMed,gnomAD
rs1209365988	p.Pro53Arg	missense variant	-	NC_000003.12:g.193614848C>G	gnomAD
rs760710808	p.Gln54His	missense variant	-	NC_000003.12:g.193614852A>T	ExAC,gnomAD
rs775741716	p.Gln54Arg	missense variant	-	NC_000003.12:g.193614851A>G	ExAC,gnomAD
rs549213088	p.Thr57Ile	missense variant	-	NC_000003.12:g.193614860C>T	TOPMed
rs1417008261	p.Ser58Phe	missense variant	-	NC_000003.12:g.193614863C>T	gnomAD
rs1448611948	p.Gln61Ter	stop gained	-	NC_000003.12:g.193614871C>T	gnomAD
RCV000605473	p.Gln61Arg	missense variant	-	NC_000003.12:g.193614872A>G	ClinVar
rs558532319	p.Gln61Arg	missense variant	-	NC_000003.12:g.193614872A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs973809690	p.Phe62Val	missense variant	-	NC_000003.12:g.193614874T>G	TOPMed
rs777179811	p.Ser63Thr	missense variant	-	NC_000003.12:g.193614877T>A	ExAC,gnomAD
rs1333436619	p.Ser64Phe	missense variant	-	NC_000003.12:g.193614881C>T	gnomAD
rs750775588	p.Pro69Ala	missense variant	-	NC_000003.12:g.193614895C>G	ExAC,TOPMed,gnomAD
RCV000200222	p.Pro69Ala	missense variant	-	NC_000003.12:g.193614895C>G	ClinVar
rs1363343192	p.Leu70Val	missense variant	-	NC_000003.12:g.193614898T>G	gnomAD
RCV000200676	p.Arg71His	missense variant	-	NC_000003.12:g.193614902G>A	ClinVar
rs766106312	p.Arg71His	missense variant	-	NC_000003.12:g.193614902G>A	ExAC,TOPMed,gnomAD
rs368488165	p.Arg71Cys	missense variant	-	NC_000003.12:g.193614901C>T	ESP,ExAC,TOPMed,gnomAD
rs532878175	p.Lys72Thr	missense variant	-	NC_000003.12:g.193614905A>C	1000Genomes,ExAC,gnomAD
rs947418738	p.Leu73Met	missense variant	-	NC_000003.12:g.193614907C>A	TOPMed
rs114157340	p.Lys74Asn	missense variant	-	NC_000003.12:g.193614912A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1312237162	p.Ser76Cys	missense variant	-	NC_000003.12:g.193614917C>G	gnomAD
rs752258799	p.Lys79Asn	missense variant	-	NC_000003.12:g.193614927A>T	ExAC,TOPMed,gnomAD
rs1432310704	p.Tyr80Asp	missense variant	-	NC_000003.12:g.193614928T>G	TOPMed
rs151103940	p.Tyr80Cys	missense variant	-	NC_000003.12:g.193614929A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151103940	p.Tyr80Cys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614929A>G	UniProt,dbSNP
VAR_060826	p.Tyr80Cys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614929A>G	UniProt
rs1464030807	p.Gly81Ser	missense variant	-	NC_000003.12:g.193614931G>A	gnomAD
RCV000594887	p.Tyr82Cys	missense variant	-	NC_000003.12:g.193614935A>G	ClinVar
rs201580797	p.Tyr82Ter	stop gained	-	NC_000003.12:g.193614936C>A	ExAC,TOPMed,gnomAD
rs749063844	p.Tyr82Cys	missense variant	-	NC_000003.12:g.193614935A>G	ExAC,TOPMed,gnomAD
rs1171915378	p.Gln83Lys	missense variant	-	NC_000003.12:g.193614937C>A	gnomAD
rs747285128	p.Pro84Leu	missense variant	-	NC_000003.12:g.193614941C>T	ExAC,gnomAD
rs372435892	p.Arg85Gly	missense variant	-	NC_000003.12:g.193614943C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35630194	p.Arg85His	missense variant	-	NC_000003.12:g.193614944G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372435892	p.Arg85Ser	missense variant	-	NC_000003.12:g.193614943C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372435892	p.Arg85Cys	missense variant	-	NC_000003.12:g.193614943C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000081761	p.Arg85His	missense variant	-	NC_000003.12:g.193614944G>A	ClinVar
RCV000372840	p.Arg85Cys	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193614943C>T	ClinVar
rs763378799	p.Arg86Gly	missense variant	-	NC_000003.12:g.193614946A>G	ExAC,gnomAD
RCV000516573	p.Arg86Ter	frameshift	-	NC_000003.12:g.193614946del	ClinVar
rs568567404	p.Phe88Leu	missense variant	-	NC_000003.12:g.193614952T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751986355	p.Ala91Thr	missense variant	-	NC_000003.12:g.193614961G>A	ExAC,TOPMed,gnomAD
rs1085307621	p.Ala91Gly	missense variant	-	NC_000003.12:g.193614962C>G	-
RCV000490111	p.Ala91Gly	missense variant	-	NC_000003.12:g.193614962C>G	ClinVar
rs751986355	p.Ala91Pro	missense variant	-	NC_000003.12:g.193614961G>C	ExAC,TOPMed,gnomAD
rs767232015	p.Leu93Ser	missense variant	-	NC_000003.12:g.193614968T>C	ExAC,gnomAD
rs752102991	p.Ala94Val	missense variant	-	NC_000003.12:g.193614971C>T	ExAC,gnomAD
rs1265633519	p.Ala94Thr	missense variant	-	NC_000003.12:g.193614970G>A	gnomAD
rs201214736	p.Thr95Met	missense variant	-	NC_000003.12:g.193614974C>T	ESP,ExAC,TOPMed,gnomAD
rs201214736	p.Thr95Arg	missense variant	-	NC_000003.12:g.193614974C>G	ESP,ExAC,TOPMed,gnomAD
rs369233231	p.Leu97Val	missense variant	-	NC_000003.12:g.193614979C>G	ESP,TOPMed,gnomAD
RCV000175871	p.Leu98Ter	frameshift	-	NC_000003.12:g.193614982_193614991del	ClinVar
rs201856560	p.Arg101His	missense variant	-	NC_000003.12:g.193614992G>A	ExAC,TOPMed,gnomAD
rs371943668	p.Arg101Ser	missense variant	-	NC_000003.12:g.193614991C>A	ESP,ExAC,TOPMed,gnomAD
rs371943668	p.Arg101Cys	missense variant	-	NC_000003.12:g.193614991C>T	ESP,ExAC,TOPMed,gnomAD
rs530896300	p.Tyr102Cys	missense variant	-	NC_000003.12:g.193614995A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs530896300	p.Tyr102Cys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614995A>G	UniProt,dbSNP
VAR_060828	p.Tyr102Cys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614995A>G	UniProt
rs1478942935	p.Tyr102Asn	missense variant	-	NC_000003.12:g.193614994T>A	gnomAD
rs530896300	p.Tyr102Phe	missense variant	-	NC_000003.12:g.193614995A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1409838390	p.Ile104Val	missense variant	-	NC_000003.12:g.193615000A>G	gnomAD
rs755117948	p.Ile104Met	missense variant	-	NC_000003.12:g.193615002A>G	ExAC,gnomAD
rs781501736	p.Gly106Arg	missense variant	-	NC_000003.12:g.193615006G>C	ExAC,gnomAD
rs376643015	p.Ser107Leu	missense variant	-	NC_000003.12:g.193615010C>T	ESP,ExAC,TOPMed,gnomAD
rs1323248886	p.Ala108Thr	missense variant	-	NC_000003.12:g.193615012G>A	gnomAD
rs77173739	p.Val109Ala	missense variant	-	NC_000003.12:g.193615016T>C	ExAC,TOPMed,gnomAD
rs77173739	p.Val109Gly	missense variant	-	NC_000003.12:g.193615016T>G	ExAC,TOPMed,gnomAD
rs771567298	p.Gly110Ala	missense variant	-	NC_000003.12:g.193615019G>C	ExAC,gnomAD
rs1287078471	p.Gly111Asp	missense variant	-	NC_000003.12:g.193615022G>A	gnomAD
rs1228523553	p.Gly112Ser	missense variant	-	NC_000003.12:g.193615024G>A	TOPMed,gnomAD
rs200983556	p.Ala115Val	missense variant	-	NC_000003.12:g.193615034C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000503172	p.Ala115Val	missense variant	-	NC_000003.12:g.193615034C>T	ClinVar
RCV000658983	p.Ala115Val	missense variant	-	NC_000003.12:g.193615034C>T	ClinVar
RCV000678318	p.Ala115Val	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193615034C>T	ClinVar
rs1290260183	p.Lys116Arg	missense variant	-	NC_000003.12:g.193615037A>G	TOPMed,gnomAD
rs760095113	p.Lys117Met	missense variant	-	NC_000003.12:g.193615040A>T	ExAC,gnomAD
rs1483320211	p.Met125Ile	missense variant	-	NC_000003.12:g.193615697G>A	gnomAD
rs891133690	p.Met125Thr	missense variant	-	NC_000003.12:g.193615696T>C	TOPMed
rs746184166	p.Ile126Met	missense variant	-	NC_000003.12:g.193615700A>G	ExAC,gnomAD
rs772551106	p.Pro127Leu	missense variant	-	NC_000003.12:g.193615702C>T	ExAC,TOPMed,gnomAD
rs547958808	p.Pro127Thr	missense variant	-	NC_000003.12:g.193615701C>A	TOPMed
rs547958808	p.Pro127Ser	missense variant	-	NC_000003.12:g.193615701C>T	TOPMed
rs760267194	p.Ser130Thr	missense variant	-	NC_000003.12:g.193615711G>C	ExAC,gnomAD
rs1478806927	p.Trp134Ter	stop gained	-	NC_000003.12:g.193615724G>A	gnomAD
rs1369310365	p.Ile135Val	missense variant	-	NC_000003.12:g.193615725A>G	gnomAD
rs1172029551	p.Pro137Leu	missense variant	-	NC_000003.12:g.193615732C>T	gnomAD
rs373512033	p.Ile139Thr	missense variant	-	NC_000003.12:g.193615738T>C	ESP
rs948720639	p.Val140Met	missense variant	-	NC_000003.12:g.193615740G>A	TOPMed
rs948720639	p.Val140Leu	missense variant	-	NC_000003.12:g.193615740G>T	TOPMed
rs1167044333	p.Val140Gly	missense variant	-	NC_000003.12:g.193615741T>G	gnomAD
rs1179088732	p.Asp144His	missense variant	-	NC_000003.12:g.193615752G>C	TOPMed,gnomAD
rs1179088732	p.Asp144Asn	missense variant	-	NC_000003.12:g.193615752G>A	TOPMed,gnomAD
rs765139537	p.Tyr146Cys	missense variant	-	NC_000003.12:g.193615759A>G	ExAC,gnomAD
rs1341844139	p.Asp148Gly	missense variant	-	NC_000003.12:g.193615765A>G	gnomAD
rs758124618	p.Asp148Tyr	missense variant	-	NC_000003.12:g.193615764G>T	ExAC,TOPMed,gnomAD
rs758124618	p.Asp148Asn	missense variant	-	NC_000003.12:g.193615764G>A	ExAC,TOPMed,gnomAD
rs1329178588	p.Lys151Arg	missense variant	-	NC_000003.12:g.193617181A>G	TOPMed
rs766257852	p.Arg153Lys	missense variant	-	NC_000003.12:g.193617187G>A	ExAC,gnomAD
rs762882041	p.Arg153Gly	missense variant	-	NC_000003.12:g.193617186A>G	ExAC,gnomAD
rs751318725	p.Ala155Gly	missense variant	-	NC_000003.12:g.193617193C>G	ExAC,gnomAD
rs751318725	p.Ala155Val	missense variant	-	NC_000003.12:g.193617193C>T	ExAC,gnomAD
rs7624750	p.Ser158Asn	missense variant	-	NC_000003.12:g.193617202G>A	UniProt,dbSNP
VAR_022924	p.Ser158Asn	missense variant	-	NC_000003.12:g.193617202G>A	UniProt
rs7624750	p.Ser158Asn	missense variant	-	NC_000003.12:g.193617202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000676692	p.Ser158Asn	missense variant	-	NC_000003.12:g.193617202G>A	ClinVar
RCV000081768	p.Ser158Asn	missense variant	-	NC_000003.12:g.193617202G>A	ClinVar
RCV000339112	p.Ser158Asn	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193617202G>A	ClinVar
rs754177232	p.Pro167Arg	missense variant	-	NC_000003.12:g.193617229C>G	ExAC,gnomAD
rs754177232	p.Pro167Leu	missense variant	-	NC_000003.12:g.193617229C>T	ExAC,gnomAD
rs754177232	p.Pro167Leu	missense variant	-	NC_000003.12:g.193617229C>T	UniProt,dbSNP
VAR_022925	p.Pro167Leu	missense variant	-	NC_000003.12:g.193617229C>T	UniProt
rs1262531072	p.Asp168Glu	missense variant	-	NC_000003.12:g.193617233C>G	gnomAD
rs1386915863	p.Phe169Ser	missense variant	-	NC_000003.12:g.193617235T>C	TOPMed
rs757394249	p.Ile172Leu	missense variant	-	NC_000003.12:g.193617243A>C	ExAC,gnomAD
rs863224126	p.Ile172Met	missense variant	-	NC_000003.12:g.193617245T>G	-
RCV000196082	p.Ile172Met	missense variant	-	NC_000003.12:g.193617245T>G	ClinVar
rs778997114	p.Val173Ile	missense variant	-	NC_000003.12:g.193617246G>A	ExAC,TOPMed,gnomAD
rs863224141	p.SerLeu177ArgTer	stop gained	-	NC_000003.12:g.193617260_193617262delinsATA	-
rs727504057	p.Ser177Arg	missense variant	-	NC_000003.12:g.193617260C>A	TOPMed
rs150279202	p.Ser177Ile	missense variant	-	NC_000003.12:g.193617259G>T	ESP,ExAC,TOPMed,gnomAD
RCV000400476	p.Ser177Ile	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193617259G>T	ClinVar
RCV000153616	p.Ser177Arg	missense variant	-	NC_000003.12:g.193617260C>A	ClinVar
RCV000197961	p.Ser177Ile	missense variant	-	NC_000003.12:g.193617259G>T	ClinVar
rs727504058	p.Leu178Ter	stop gained	-	NC_000003.12:g.193617262T>A	TOPMed
RCV000178304	p.Leu178Ter	nonsense	-	NC_000003.12:g.193617262T>A	ClinVar
rs747354358	p.Lys180Asn	missense variant	-	NC_000003.12:g.193617269G>T	ExAC,gnomAD
rs780451120	p.Lys180Arg	missense variant	-	NC_000003.12:g.193617268A>G	ExAC,TOPMed,gnomAD
rs780451120	p.Lys180Thr	missense variant	-	NC_000003.12:g.193617268A>C	ExAC,TOPMed,gnomAD
rs780818428	p.Asp181His	missense variant	-	NC_000003.12:g.193617270G>C	ExAC,gnomAD
rs138884045	p.Asp181Gly	missense variant	-	NC_000003.12:g.193617271A>G	ESP,ExAC,TOPMed,gnomAD
RCV000522753	p.Asp181Gly	missense variant	-	NC_000003.12:g.193617271A>G	ClinVar
rs769335936	p.Phe182Leu	missense variant	-	NC_000003.12:g.193617273T>C	ExAC,gnomAD
RCV000304297	p.Phe182Leu	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193617273T>C	ClinVar
rs772737325	p.Phe183Ser	missense variant	-	NC_000003.12:g.193617277T>C	ExAC,gnomAD
rs745405591	p.Gly186Ala	missense variant	-	NC_000003.12:g.193618869G>C	ExAC,gnomAD
rs1173992034	p.Ser187Phe	missense variant	-	NC_000003.12:g.193618872C>T	gnomAD
rs772090345	p.Pro188Leu	missense variant	-	NC_000003.12:g.193618875C>T	ExAC,TOPMed,gnomAD
rs569675223	p.Glu189Lys	missense variant	-	NC_000003.12:g.193618877G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs569675223	p.Glu189Gln	missense variant	-	NC_000003.12:g.193618877G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000197331	p.Glu189Lys	missense variant	-	NC_000003.12:g.193618877G>A	ClinVar
rs1389979442	p.Thr191Ala	missense variant	-	NC_000003.12:g.193618883A>G	TOPMed
rs772596317	p.Thr191Met	missense variant	-	NC_000003.12:g.193618884C>T	ExAC,TOPMed,gnomAD
RCV000363524	p.Ala192Val	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193618887C>T	ClinVar
rs34307082	p.Ala192Val	missense variant	-	NC_000003.12:g.193618887C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774364044	p.Phe193Tyr	missense variant	-	NC_000003.12:g.193618890T>A	ExAC,gnomAD
rs774364044	p.Phe193Ser	missense variant	-	NC_000003.12:g.193618890T>C	ExAC,gnomAD
rs759660552	p.Arg194Lys	missense variant	-	NC_000003.12:g.193618893G>A	ExAC,gnomAD
rs1198238586	p.Thr196Arg	missense variant	-	NC_000003.12:g.193618899C>G	TOPMed
rs1489880934	p.Arg198Cys	missense variant	-	NC_000003.12:g.193618904C>T	TOPMed
rs541206547	p.Arg198His	missense variant	-	NC_000003.12:g.193618905G>A	1000Genomes,ExAC,gnomAD
rs1271242678	p.Gly199Arg	missense variant	-	NC_000003.12:g.193618907G>A	TOPMed
rs200243596	p.Ser200Phe	missense variant	-	NC_000003.12:g.193618911C>T	ESP,ExAC,TOPMed,gnomAD
RCV000489535	p.Ser200Phe	missense variant	-	NC_000003.12:g.193618911C>T	ClinVar
RCV000390873	p.Ser200Phe	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193618911C>T	ClinVar
RCV000765718	p.Ser200Phe	missense variant	Abortive cerebellar ataxia (BEHRS)	NC_000003.12:g.193618911C>T	ClinVar
rs367814426	p.Asp203Asn	missense variant	-	NC_000003.12:g.193618919G>A	ESP,TOPMed
rs1464256773	p.Phe206Leu	missense variant	-	NC_000003.12:g.193618930T>G	TOPMed,gnomAD
rs1385422732	p.Val209Met	missense variant	-	NC_000003.12:g.193631612G>A	gnomAD
rs1383837356	p.Asp211His	missense variant	-	NC_000003.12:g.193631618G>C	gnomAD
rs1329385935	p.Lys212Arg	missense variant	-	NC_000003.12:g.193631622A>G	TOPMed,gnomAD
rs1223035487	p.Glu213Lys	missense variant	-	NC_000003.12:g.193631624G>A	gnomAD
RCV000196603	p.Lys214Ter	frameshift	-	NC_000003.12:g.193631624_193631625GA[1]	ClinVar
rs755170922	p.Ile215Thr	missense variant	-	NC_000003.12:g.193631631T>C	ExAC,gnomAD
rs747318052	p.Ile215Val	missense variant	-	NC_000003.12:g.193631630A>G	ExAC,gnomAD
rs376067292	p.Asp216Tyr	missense variant	-	NC_000003.12:g.193631633G>T	ESP,ExAC,TOPMed,gnomAD
rs1258694003	p.Gln219Arg	missense variant	-	NC_000003.12:g.193631643A>G	TOPMed
rs200223621	p.Leu222Pro	missense variant	-	NC_000003.12:g.193631652T>C	1000Genomes,ExAC,gnomAD
rs770377465	p.Leu223Arg	missense variant	-	NC_000003.12:g.193631655T>G	ExAC,TOPMed,gnomAD
rs774668971	p.Thr225Ala	missense variant	-	NC_000003.12:g.193631660A>G	TOPMed,gnomAD
rs1374279494	p.Lys228Met	missense variant	-	NC_000003.12:g.193635422A>T	gnomAD
rs760177302	p.Tyr229Cys	missense variant	-	NC_000003.12:g.193635425A>G	ExAC,TOPMed,gnomAD
rs863224128	p.Tyr229Ter	stop gained	-	NC_000003.12:g.193635426T>G	-
RCV000195515	p.Tyr229Ter	nonsense	-	NC_000003.12:g.193635426T>G	ClinVar
rs760177302	p.Tyr229Phe	missense variant	-	NC_000003.12:g.193635425A>T	ExAC,TOPMed,gnomAD
VAR_082805	p.Arg229His	Missense	-	-	UniProt
rs776022520	p.Gln230His	missense variant	-	NC_000003.12:g.193635429G>T	ExAC,gnomAD
rs951002467	p.Ile232Thr	missense variant	-	NC_000003.12:g.193635434T>C	TOPMed
rs1319065221	p.Glu234Lys	missense variant	-	NC_000003.12:g.193635439G>A	gnomAD
rs1319065221	p.Glu234Ter	stop gained	-	NC_000003.12:g.193635439G>T	gnomAD
RCV000513373	p.Glu234Ter	nonsense	-	NC_000003.12:g.193635439G>T	ClinVar
rs765118029	p.Arg235Gln	missense variant	-	NC_000003.12:g.193635443G>A	ExAC,TOPMed,gnomAD
rs761743852	p.Arg235Ter	stop gained	-	NC_000003.12:g.193635442C>T	ExAC,gnomAD
RCV000518107	p.Arg235Ter	nonsense	-	NC_000003.12:g.193635442C>T	ClinVar
rs1339420283	p.Lys238Arg	missense variant	-	NC_000003.12:g.193635452A>G	gnomAD
rs750185470	p.Asn240Lys	missense variant	-	NC_000003.12:g.193635459C>G	ExAC,gnomAD
rs863225274	p.Leu243Ter	stop gained	-	NC_000003.12:g.193635467T>A	-
RCV000201902	p.Leu243Ter	nonsense	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193635467T>A	ClinVar
rs1488795500	p.Leu246Ser	missense variant	-	NC_000003.12:g.193635476T>C	TOPMed
rs1251411053	p.Val247Leu	missense variant	-	NC_000003.12:g.193635478G>C	gnomAD
rs1251411053	p.Val247Ile	missense variant	-	NC_000003.12:g.193635478G>A	gnomAD
rs1179766934	p.Gln249His	missense variant	-	NC_000003.12:g.193635486G>C	gnomAD
rs1291549256	p.Lys250Arg	missense variant	-	NC_000003.12:g.193635488A>G	TOPMed
rs1242284456	p.Asp251Tyr	missense variant	-	NC_000003.12:g.193635490G>T	TOPMed,gnomAD
rs1236699901	p.Asp251Gly	missense variant	-	NC_000003.12:g.193635491A>G	gnomAD
rs147242797	p.Asp252Glu	missense variant	-	NC_000003.12:g.193635495C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767846962	p.Gly254Ala	missense variant	-	NC_000003.12:g.193635500G>C	ExAC,gnomAD
rs1409339839	p.His257Arg	missense variant	-	NC_000003.12:g.193635509A>G	gnomAD
RCV000486512	p.Ile265Ter	frameshift	-	NC_000003.12:g.193637201_193637204TTGA[1]	ClinVar
rs1335020558	p.Asp266Gly	missense variant	-	NC_000003.12:g.193637208A>G	gnomAD
rs938874214	p.Met267Val	missense variant	-	NC_000003.12:g.193637210A>G	TOPMed,gnomAD
rs932927085	p.Met267Thr	missense variant	-	NC_000003.12:g.193637211T>C	TOPMed,gnomAD
rs938874214	p.Met267Leu	missense variant	-	NC_000003.12:g.193637210A>T	TOPMed,gnomAD
RCV000523231	p.Met267Val	missense variant	-	NC_000003.12:g.193637210A>G	ClinVar
rs1406231398	p.Glu270Ala	missense variant	-	NC_000003.12:g.193637220A>C	gnomAD
VAR_060829	p.Glu270Lys	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs760938906	p.Val271Ala	missense variant	-	NC_000003.12:g.193637223T>C	ExAC,gnomAD
VAR_060830	p.Leu272Pro	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
VAR_060831	p.Asp273Ala	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1347426414	p.Val274Ile	missense variant	-	NC_000003.12:g.193637231G>A	gnomAD
rs878971168	p.Ala280Val	missense variant	-	NC_000003.12:g.193637250C>T	TOPMed
rs148310479	p.Ala280Thr	missense variant	-	NC_000003.12:g.193637249G>A	ESP,ExAC,gnomAD
rs765766805	p.Ser281Arg	missense variant	-	NC_000003.12:g.193637252A>C	ExAC
rs1406390113	p.Tyr282Cys	missense variant	-	NC_000003.12:g.193637256A>G	gnomAD
rs141326740	p.Thr284Met	missense variant	-	NC_000003.12:g.193637262C>T	ESP,ExAC,TOPMed,gnomAD
rs201670377	p.Gln285Pro	missense variant	-	NC_000003.12:g.193637265A>C	ESP,TOPMed,gnomAD
rs780333963	p.Arg290Trp	missense variant	-	NC_000003.12:g.193637279C>T	ExAC,gnomAD
RCV000005389	p.Arg290Gln	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193637280G>A	ClinVar
RCV000454141	p.Arg290Trp	missense variant	-	NC_000003.12:g.193637279C>T	ClinVar
rs121908375	p.Arg290Gln	missense variant	-	NC_000003.12:g.193637280G>A	-
rs121908375	p.Arg290Gln	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637280G>A	UniProt,dbSNP
VAR_011483	p.Arg290Gln	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637280G>A	UniProt
RCV000790668	p.Arg290Gln	missense variant	-	NC_000003.12:g.193637280G>A	ClinVar
rs1553876592	p.Val291Asp	missense variant	-	NC_000003.12:g.193637953T>A	-
RCV000516478	p.Val291Asp	missense variant	-	NC_000003.12:g.193637953T>A	ClinVar
RCV000709838	p.Val291Leu	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193637952G>C	ClinVar
VAR_060833	p.Val293_Val294del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs863224131	p.Val294Phe	missense variant	-	NC_000003.12:g.193637961G>T	-
RCV000196148	p.Val294Phe	missense variant	-	NC_000003.12:g.193637961G>T	ClinVar
rs28939082	p.Gly300Glu	missense variant	-	NC_000003.12:g.193637980G>A	-
rs28939082	p.Gly300Glu	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637980G>A	UniProt,dbSNP
VAR_011484	p.Gly300Glu	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637980G>A	UniProt
RCV000005385	p.Gly300Glu	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193637980G>A	ClinVar
rs1300441555	p.Ser303Thr	missense variant	-	NC_000003.12:g.193637989G>C	TOPMed
rs755794042	p.Glu306Asp	missense variant	-	NC_000003.12:g.193637999A>T	ExAC,gnomAD
rs777107414	p.Ala309Val	missense variant	-	NC_000003.12:g.193638007C>T	ExAC,TOPMed,gnomAD
rs770966290	p.Gln310Arg	missense variant	-	NC_000003.12:g.193638010A>G	ExAC,TOPMed,gnomAD
rs748829492	p.Gln310Glu	missense variant	-	NC_000003.12:g.193638009C>G	ExAC,gnomAD
rs398124302	p.Ala311Asp	missense variant	-	NC_000003.12:g.193638013C>A	-
RCV000081774	p.Ala311Asp	missense variant	-	NC_000003.12:g.193638013C>A	ClinVar
rs372878876	p.Arg312Gln	missense variant	-	NC_000003.12:g.193638016G>A	ESP,ExAC,TOPMed,gnomAD
rs771817617	p.Ile313Met	missense variant	-	NC_000003.12:g.193638020A>G	ExAC,gnomAD
rs1371195522	p.Ile313Val	missense variant	-	NC_000003.12:g.193638018A>G	gnomAD
rs367749415	p.Gly317Ala	missense variant	-	NC_000003.12:g.193638031G>C	gnomAD
rs1203388364	p.Gly319Val	missense variant	-	NC_000003.12:g.193638037G>T	gnomAD
rs863224132	p.Met321Val	missense variant	-	NC_000003.12:g.193638042A>G	gnomAD
RCV000198713	p.Met321Val	missense variant	-	NC_000003.12:g.193638042A>G	ClinVar
rs775371840	p.Met321Ile	missense variant	-	NC_000003.12:g.193638044G>A	ExAC,gnomAD
rs552243068	p.Arg324Cys	missense variant	-	NC_000003.12:g.193638051C>T	ExAC,TOPMed,gnomAD
rs1475478496	p.Arg324His	missense variant	-	NC_000003.12:g.193638052G>A	TOPMed,gnomAD
VAR_060835	p.Arg324_Pro326del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1358982822	p.Val327Ile	missense variant	-	NC_000003.12:g.193638060G>A	TOPMed
rs398124303	p.Lys328Thr	missense variant	-	NC_000003.12:g.193638064A>C	ExAC,gnomAD
rs398124303	p.Lys328Arg	missense variant	-	NC_000003.12:g.193638064A>G	ExAC,gnomAD
RCV000180653	p.Lys328Arg	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193638064A>G	ClinVar
RCV000728078	p.Lys328Asn	missense variant	-	NC_000003.12:g.193638065G>T	ClinVar
RCV000081775	p.Lys328Arg	missense variant	-	NC_000003.12:g.193638064A>G	ClinVar
VAR_072125	p.Thr330Ser	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs752981898	p.Gly334Ser	missense variant	-	NC_000003.12:g.193642780G>A	ExAC,TOPMed,gnomAD
rs863224133	p.Gly334Asp	missense variant	-	NC_000003.12:g.193642781G>A	gnomAD
rs1057524630	p.Pro335Ser	missense variant	-	NC_000003.12:g.193642783C>T	gnomAD
RCV000438050	p.Pro335Ser	missense variant	-	NC_000003.12:g.193642783C>T	ClinVar
rs1553877591	p.His337Asp	missense variant	-	NC_000003.12:g.193642789C>G	-
rs763830900	p.His337Pro	missense variant	-	NC_000003.12:g.193642790A>C	ExAC,gnomAD
RCV000517008	p.His337Asp	missense variant	-	NC_000003.12:g.193642789C>G	ClinVar
rs1057517999	p.Lys342Glu	missense variant	-	NC_000003.12:g.193642804A>G	-
RCV000414220	p.Lys342Glu	missense variant	-	NC_000003.12:g.193642804A>G	ClinVar
rs756981921	p.Asp343Ala	missense variant	-	NC_000003.12:g.193642808A>C	ExAC,TOPMed,gnomAD
rs756981921	p.Asp343Gly	missense variant	-	NC_000003.12:g.193642808A>G	ExAC,TOPMed,gnomAD
RCV000197106	p.Asp343Ala	missense variant	-	NC_000003.12:g.193642808A>C	ClinVar
rs1553877599	p.Ser344Arg	missense variant	-	NC_000003.12:g.193642810A>C	-
RCV000676695	p.Ser344Arg	missense variant	-	NC_000003.12:g.193642810A>C	ClinVar
rs1351958588	p.Ser345Phe	missense variant	-	NC_000003.12:g.193642814C>T	TOPMed,gnomAD
RCV000498233	p.Arg346Gln	missense variant	-	NC_000003.12:g.193642817G>A	ClinVar
rs1180256773	p.Arg346Gln	missense variant	-	NC_000003.12:g.193642817G>A	TOPMed
rs764775588	p.Arg346Trp	missense variant	-	NC_000003.12:g.193642816C>T	ExAC,TOPMed,gnomAD
rs749983079	p.Leu350Val	missense variant	-	NC_000003.12:g.193642828C>G	ExAC,gnomAD
rs758223005	p.Glu354Gln	missense variant	-	NC_000003.12:g.193642840G>C	ExAC,TOPMed,gnomAD
rs1268966471	p.Asp355Asn	missense variant	-	NC_000003.12:g.193642843G>A	TOPMed,gnomAD
rs190223702	p.Ala357Thr	missense variant	-	NC_000003.12:g.193642978G>A	1000Genomes,ExAC,gnomAD
RCV000201881	p.Ala357Ter	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193642976_193642977dup	ClinVar
rs777142558	p.Arg360Thr	missense variant	-	NC_000003.12:g.193642988G>C	ExAC,gnomAD
rs144081717	p.His361Gln	missense variant	-	NC_000003.12:g.193642992T>G	ESP,ExAC,gnomAD
rs139207741	p.His361Leu	missense variant	-	NC_000003.12:g.193642991A>T	ESP,TOPMed,gnomAD
rs144081717	p.His361Gln	missense variant	-	NC_000003.12:g.193642992T>A	ESP,ExAC,gnomAD
rs139207741	p.His361Arg	missense variant	-	NC_000003.12:g.193642991A>G	ESP,TOPMed,gnomAD
rs765008217	p.Ile363Leu	missense variant	-	NC_000003.12:g.193642996A>C	ExAC,gnomAD
rs104893753	p.Arg366Ter	stop gained	-	NC_000003.12:g.193643005C>T	-
rs535885178	p.Arg366Gln	missense variant	-	NC_000003.12:g.193643006G>A	TOPMed,gnomAD
RCV000790742	p.Arg366Ter	nonsense	-	NC_000003.12:g.193643005C>T	ClinVar
RCV000005390	p.Arg366Ter	nonsense	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193643005C>T	ClinVar
RCV000442276	p.Arg366Gln	missense variant	-	NC_000003.12:g.193643006G>A	ClinVar
rs1460657196	p.Lys369Thr	missense variant	-	NC_000003.12:g.193643015A>C	gnomAD
rs749882061	p.Val371Met	missense variant	-	NC_000003.12:g.193643020G>A	ExAC,gnomAD
rs765587242	p.Lys372ArgTer	stop gained	-	NC_000003.12:g.193643023_193643024insGGT	ExAC
rs146003075	p.Gly374Asp	missense variant	-	NC_000003.12:g.193643030G>A	ESP,ExAC,TOPMed,gnomAD
rs757965997	p.Gly374Arg	missense variant	-	NC_000003.12:g.193643029G>C	ExAC,gnomAD
rs146003075	p.Gly374Ala	missense variant	-	NC_000003.12:g.193643030G>C	ESP,ExAC,TOPMed,gnomAD
rs1313421147	p.Cys375Arg	missense variant	-	NC_000003.12:g.193643032T>C	gnomAD
rs1279759244	p.Thr376Pro	missense variant	-	NC_000003.12:g.193643035A>C	TOPMed
rs780922750	p.Val377Phe	missense variant	-	NC_000003.12:g.193643038G>T	ExAC,TOPMed,gnomAD
rs780922750	p.Val377Ile	missense variant	-	NC_000003.12:g.193643038G>A	ExAC,TOPMed,gnomAD
rs780922750	p.Val377Ile	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643038G>A	UniProt,dbSNP
VAR_072126	p.Val377Ile	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643038G>A	UniProt
rs762004680	p.Pro379Ser	missense variant	-	NC_000003.12:g.193643044C>T	ExAC,TOPMed,gnomAD
rs1174632014	p.Thr381Ser	missense variant	-	NC_000003.12:g.193643374C>G	gnomAD
rs143319805	p.Ile382Met	missense variant	-	NC_000003.12:g.193643378A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000081747	p.Ile382Met	missense variant	-	NC_000003.12:g.193643378A>G	ClinVar
VAR_060838	p.Leu384Phe	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs748519009	p.Asn385Ser	missense variant	-	NC_000003.12:g.193643386A>G	ExAC,TOPMed,gnomAD
rs1343907999	p.Lys387Glu	missense variant	-	NC_000003.12:g.193643391A>G	gnomAD
rs762601720	p.Gln392Arg	missense variant	-	NC_000003.12:g.193643407A>G	ExAC,gnomAD
rs377726977	p.Met394Ile	missense variant	-	NC_000003.12:g.193643414G>A	ESP,TOPMed,gnomAD
rs773887827	p.Met394Val	missense variant	-	NC_000003.12:g.193643412A>G	ExAC,TOPMed,gnomAD
rs727504060	p.Leu396His	missense variant	-	NC_000003.12:g.193643419T>A	gnomAD
rs727504060	p.Leu396Arg	missense variant	-	NC_000003.12:g.193643419T>G	gnomAD
RCV000153621	p.Leu396Arg	missense variant	-	NC_000003.12:g.193643419T>G	ClinVar
RCV000200712	p.Leu396His	missense variant	-	NC_000003.12:g.193643419T>A	ClinVar
rs727504060	p.Leu396Pro	missense variant	-	NC_000003.12:g.193643419T>C	gnomAD
RCV000174378	p.Pro400Leu	missense variant	-	NC_000003.12:g.193643431C>T	ClinVar
RCV000508855	p.Pro400Ser	missense variant	Mitochondrial diseases	NC_000003.12:g.193643430C>T	ClinVar
rs794727069	p.Pro400Leu	missense variant	-	NC_000003.12:g.193643431C>T	-
rs1553877864	p.Pro400Ser	missense variant	-	NC_000003.12:g.193643430C>T	-
VAR_067355	p.Pro400Ala	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs863225276	p.Gly401Asp	missense variant	-	NC_000003.12:g.193643434G>A	-
RCV000201900	p.Gly401Asp	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193643434G>A	ClinVar
rs879255594	p.Val402Met	missense variant	-	NC_000003.12:g.193643436G>A	-
rs879255594	p.Val402Met	missense variant	Behr syndrome (BEHRS)	NC_000003.12:g.193643436G>A	UniProt,dbSNP
VAR_075903	p.Val402Met	missense variant	Behr syndrome (BEHRS)	NC_000003.12:g.193643436G>A	UniProt
RCV000210739	p.Val402Met	missense variant	Abortive cerebellar ataxia (BEHRS)	NC_000003.12:g.193643436G>A	ClinVar
rs863224135	p.Ile403Thr	missense variant	-	NC_000003.12:g.193643440T>C	-
RCV000198337	p.Ile403Thr	missense variant	-	NC_000003.12:g.193643440T>C	ClinVar
rs1242989944	p.Asn404Ser	missense variant	-	NC_000003.12:g.193643443A>G	TOPMed
rs1281897308	p.Asn404Lys	missense variant	-	NC_000003.12:g.193643444T>G	gnomAD
RCV000597597	p.Gly409Ter	frameshift	-	NC_000003.12:g.193643539dup	ClinVar
rs752296610	p.Gly409Asp	missense variant	-	NC_000003.12:g.193643541G>A	ExAC,TOPMed,gnomAD
rs774053122	p.Ala411Gly	missense variant	-	NC_000003.12:g.193643547C>G	ExAC,gnomAD
rs774053122	p.Ala411Val	missense variant	-	NC_000003.12:g.193643547C>T	ExAC,gnomAD
rs1357216250	p.Glu416Lys	missense variant	-	NC_000003.12:g.193643561G>A	gnomAD
rs1289248128	p.Phe419Leu	missense variant	-	NC_000003.12:g.193643570T>C	gnomAD
rs1452342143	p.Phe419Cys	missense variant	-	NC_000003.12:g.193643571T>G	gnomAD
rs1224127176	p.Ser420Ile	missense variant	-	NC_000003.12:g.193643574G>T	gnomAD
rs1553877941	p.Ser422Arg	missense variant	-	NC_000003.12:g.193643581C>G	-
rs1231502335	p.Ser422Gly	missense variant	-	NC_000003.12:g.193643579A>G	gnomAD
RCV000516850	p.Ser422Arg	missense variant	-	NC_000003.12:g.193643581C>G	ClinVar
rs759032999	p.Met426Leu	missense variant	-	NC_000003.12:g.193643591A>T	ExAC
rs771512430	p.Gln427Lys	missense variant	-	NC_000003.12:g.193643594C>A	ExAC,gnomAD
VAR_060840	p.Pro429_Asn430del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
VAR_060841	p.Asn430Asp	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs387906899	p.Ile432Val	missense variant	-	NC_000003.12:g.193643609A>G	-
RCV000023414	p.Ile432Val	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193643609A>G	ClinVar
RCV000508763	p.Ile432Val	missense variant	Mitochondrial diseases	NC_000003.12:g.193643609A>G	ClinVar
VAR_011485	p.Ile432del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1382660671	p.Ile433Met	missense variant	-	NC_000003.12:g.193643614A>G	gnomAD
rs1179683327	p.Ile433Val	missense variant	-	NC_000003.12:g.193643612A>G	gnomAD
rs1553877946	p.Leu434Pro	missense variant	-	NC_000003.12:g.193643616T>C	-
RCV000497888	p.Leu434Pro	missense variant	-	NC_000003.12:g.193643616T>C	ClinVar
rs863225277	p.Gln437Arg	missense variant	-	NC_000003.12:g.193643625A>G	-
RCV000274390	p.Gln437Arg	missense variant	-	NC_000003.12:g.193643625A>G	ClinVar
RCV000201926	p.Gln437Arg	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193643625A>G	ClinVar
VAR_060842	p.Asp438Val	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs387906900	p.Gly439Val	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643978G>T	UniProt,dbSNP
VAR_072127	p.Gly439Val	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643978G>T	UniProt
rs387906900	p.Gly439Val	missense variant	-	NC_000003.12:g.193643978G>T	-
RCV000023416	p.Gly439Val	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193643978G>T	ClinVar
rs1064795743	p.Asp442Ala	missense variant	-	NC_000003.12:g.193643987A>C	-
RCV000484153	p.Asp442Ala	missense variant	-	NC_000003.12:g.193643987A>C	ClinVar
rs886043340	p.Arg445Ser	missense variant	-	NC_000003.12:g.193643995C>A	TOPMed,gnomAD
rs80356529	p.Arg445His	missense variant	-	NC_000003.12:g.193643996G>A	-
rs80356529	p.Arg445Pro	missense variant	-	NC_000003.12:g.193643996G>C	-
rs80356529	p.Arg445His	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643996G>A	UniProt,dbSNP
VAR_015741	p.Arg445His	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643996G>A	UniProt
RCV000005396	p.Arg445His	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193643996G>A	ClinVar
RCV000508953	p.Arg445His	missense variant	Mitochondrial diseases	NC_000003.12:g.193643996G>A	ClinVar
RCV000294079	p.Arg445Ser	missense variant	-	NC_000003.12:g.193643995C>A	ClinVar
rs886043340	p.Arg445Cys	missense variant	-	NC_000003.12:g.193643995C>T	TOPMed,gnomAD
RCV000081749	p.Arg445His	missense variant	-	NC_000003.12:g.193643996G>A	ClinVar
RCV000622959	p.Arg445Pro	missense variant	Inborn genetic diseases	NC_000003.12:g.193643996G>C	ClinVar
rs1478412519	p.Ile447Thr	missense variant	-	NC_000003.12:g.193644002T>C	TOPMed
rs776499463	p.Thr449Ala	missense variant	-	NC_000003.12:g.193644007A>G	ExAC,gnomAD
RCV000184014	p.Thr449Ter	frameshift	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193644008del	ClinVar
VAR_060843	p.Thr449Arg	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
VAR_072128	p.Thr449Pro	Missense	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]	-	UniProt
rs764886497	p.Asp450Gly	missense variant	-	NC_000003.12:g.193644011A>G	ExAC,gnomAD
rs761655742	p.Asp450Asn	missense variant	-	NC_000003.12:g.193644010G>A	ExAC,TOPMed,gnomAD
rs761655742	p.Asp450His	missense variant	-	NC_000003.12:g.193644010G>C	ExAC,TOPMed,gnomAD
rs759794795	p.Leu451Phe	missense variant	-	NC_000003.12:g.193644015G>C	ExAC,TOPMed,gnomAD
rs759794795	p.Leu451Phe	missense variant	-	NC_000003.12:g.193644015G>T	ExAC,TOPMed,gnomAD
RCV000174779	p.Leu451Ter	frameshift	-	NC_000003.12:g.193644014del	ClinVar
rs1261850341	p.Val452Ile	missense variant	-	NC_000003.12:g.193644016G>A	gnomAD
RCV000005392	p.Val452Ter	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193644016del	ClinVar
rs1477934829	p.Gln454Glu	missense variant	-	NC_000003.12:g.193644022C>G	gnomAD
rs752791350	p.His458Arg	missense variant	-	NC_000003.12:g.193644035A>G	ExAC,gnomAD
VAR_072129	p.Gly459Glu	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs756210793	p.Thr462Ile	missense variant	-	NC_000003.12:g.193644047C>T	ExAC,gnomAD
rs1553878117	p.Thr462Pro	missense variant	-	NC_000003.12:g.193644046A>C	-
RCV000497936	p.Thr462Pro	missense variant	-	NC_000003.12:g.193644046A>C	ClinVar
rs764645111	p.Ile463Met	missense variant	-	NC_000003.12:g.193644051A>G	ExAC,gnomAD
VAR_060844	p.Ile463insIlePheIlePhe	inframe_insertion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs757786063	p.Phe464Leu	missense variant	-	NC_000003.12:g.193644052T>C	ExAC,gnomAD
rs1316299925	p.Phe464Cys	missense variant	-	NC_000003.12:g.193644053T>G	gnomAD
rs1449438236	p.Val465Ile	missense variant	-	NC_000003.12:g.193644055G>A	gnomAD
VAR_060845	p.Lys468Glu	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
VAR_060846	p.Asp470Gly	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
RCV000517949	p.Leu471Pro	missense variant	-	NC_000003.12:g.193644074T>C	ClinVar
rs1553878150	p.Leu471Pro	missense variant	-	NC_000003.12:g.193644074T>C	-
RCV000197417	p.Asn475Lys	missense variant	-	NC_000003.12:g.193644087T>A	ClinVar
rs863224137	p.Asn475Lys	missense variant	-	NC_000003.12:g.193644087T>A	gnomAD
rs779722414	p.Val476Ile	missense variant	-	NC_000003.12:g.193644088G>A	ExAC,gnomAD
rs779722414	p.Val476Leu	missense variant	-	NC_000003.12:g.193644088G>T	ExAC,gnomAD
rs778928726	p.Ser478Gly	missense variant	-	NC_000003.12:g.193644094A>G	ExAC,gnomAD
rs1284682083	p.Ser480Thr	missense variant	-	NC_000003.12:g.193644101G>C	gnomAD
rs776222399	p.Arg481Lys	missense variant	-	NC_000003.12:g.193644104G>A	ExAC,gnomAD
rs769834896	p.Gln483Arg	missense variant	-	NC_000003.12:g.193645557A>G	ExAC,TOPMed,gnomAD
rs373593484	p.Ile486Leu	missense variant	-	NC_000003.12:g.193645565A>C	ESP,ExAC,TOPMed,gnomAD
rs373593484	p.Ile486Phe	missense variant	-	NC_000003.12:g.193645565A>T	ESP,ExAC,TOPMed,gnomAD
VAR_060847	p.Glu487Lys	Missense	Behr syndrome (BEHRS) [MIM:210000]	-	UniProt
VAR_060847	p.Glu487Lys	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1553878554	p.Gly488Arg	missense variant	-	NC_000003.12:g.193645571G>A	-
RCV000516363	p.Gly488Arg	missense variant	-	NC_000003.12:g.193645571G>A	ClinVar
rs201301622	p.Lys489Glu	missense variant	-	NC_000003.12:g.193645574A>G	1000Genomes,ExAC,gnomAD
rs1243027291	p.Leu490Arg	missense variant	-	NC_000003.12:g.193645578T>G	gnomAD
rs1312276339	p.Leu496Val	missense variant	-	NC_000003.12:g.193645595T>G	gnomAD
RCV000517455	p.Val501Ile	missense variant	-	NC_000003.12:g.193645610G>A	ClinVar
rs1553878564	p.Val501Ile	missense variant	-	NC_000003.12:g.193645610G>A	-
VAR_072130	p.Val502Gly	Missense	-	-	UniProt
VAR_022928	p.Thr503Lys	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
VAR_060848	p.Lys505Asn	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs778522595	p.Asn507Tyr	missense variant	-	NC_000003.12:g.193645730A>T	ExAC,gnomAD
rs1440774083	p.Ser508Asn	missense variant	-	NC_000003.12:g.193645734G>A	TOPMed
rs1467607281	p.Ser509Pro	missense variant	-	NC_000003.12:g.193645736T>C	TOPMed,gnomAD
rs745723164	p.Ser511Asn	missense variant	-	NC_000003.12:g.193645743G>A	ExAC,gnomAD
RCV000594117	p.Ser511Ter	frameshift	-	NC_000003.12:g.193645742delinsTTC	ClinVar
rs148834015	p.Ile512Thr	missense variant	-	NC_000003.12:g.193645746T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000658247	p.Ile512Thr	missense variant	-	NC_000003.12:g.193645746T>C	ClinVar
rs148834015	p.Ile512Ser	missense variant	-	NC_000003.12:g.193645746T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776979728	p.Ile515Leu	missense variant	-	NC_000003.12:g.193645754A>C	ExAC,gnomAD
rs1258426164	p.Ile515Thr	missense variant	-	NC_000003.12:g.193645755T>C	gnomAD
rs748215343	p.Glu517Gln	missense variant	-	NC_000003.12:g.193645760G>C	ExAC,gnomAD
rs1424763009	p.Glu520Asp	missense variant	-	NC_000003.12:g.193645771A>C	gnomAD
rs1399946720	p.Glu521Lys	missense variant	-	NC_000003.12:g.193645772G>A	TOPMed,gnomAD
rs773284755	p.Glu521Asp	missense variant	-	NC_000003.12:g.193645774G>T	ExAC,gnomAD
rs538099724	p.Gln524His	missense variant	-	NC_000003.12:g.193645783G>C	1000Genomes,ExAC,gnomAD
RCV000280763	p.Gln524His	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193645783G>C	ClinVar
RCV000712461	p.Gln524Ter	frameshift	-	NC_000003.12:g.193645780del	ClinVar
rs1359019135	p.Asn525Ile	missense variant	-	NC_000003.12:g.193645785A>T	gnomAD
rs766935532	p.Lys527Glu	missense variant	-	NC_000003.12:g.193645790A>G	ExAC,gnomAD
rs766935532	p.Lys527Gln	missense variant	-	NC_000003.12:g.193645790A>C	ExAC,gnomAD
rs750061842	p.Lys527Arg	missense variant	-	NC_000003.12:g.193645791A>G	ExAC,TOPMed,gnomAD
RCV000756449	p.Lys527Gln	missense variant	-	NC_000003.12:g.193645790A>C	ClinVar
rs1283533934	p.Leu529Arg	missense variant	-	NC_000003.12:g.193645797T>G	TOPMed
rs767851780	p.Lys530Asn	missense variant	-	NC_000003.12:g.193647065G>T	ExAC,gnomAD
rs1274025485	p.Ser532Gly	missense variant	-	NC_000003.12:g.193647069A>G	gnomAD
rs1368090328	p.Ser532Asn	missense variant	-	NC_000003.12:g.193647070G>A	gnomAD
rs1352941521	p.Met533Ile	missense variant	-	NC_000003.12:g.193647074G>T	TOPMed,gnomAD
rs1352941521	p.Met533Ile	missense variant	-	NC_000003.12:g.193647074G>A	TOPMed,gnomAD
rs142520373	p.Met533Val	missense variant	-	NC_000003.12:g.193647072A>G	ESP,ExAC,gnomAD
RCV000210746	p.Leu534Arg	missense variant	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (MTDPS14)	NC_000003.12:g.193647076T>G	ClinVar
rs869312995	p.Leu534Arg	missense variant	-	NC_000003.12:g.193647076T>G	-
rs869312995	p.Leu534Arg	missense variant	Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)	NC_000003.12:g.193647076T>G	UniProt,dbSNP
VAR_075904	p.Leu534Arg	missense variant	Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)	NC_000003.12:g.193647076T>G	UniProt
rs182251953	p.Ala536Pro	missense variant	-	NC_000003.12:g.193647081G>C	1000Genomes,ESP,TOPMed,gnomAD
rs182251953	p.Ala536Thr	missense variant	-	NC_000003.12:g.193647081G>A	1000Genomes,ESP,TOPMed,gnomAD
rs1219722964	p.His537Arg	missense variant	-	NC_000003.12:g.193647085A>G	gnomAD
rs753365296	p.His537Gln	missense variant	-	NC_000003.12:g.193647086C>G	ExAC,gnomAD
rs1489038208	p.Gln538Arg	missense variant	-	NC_000003.12:g.193647088A>G	gnomAD
rs756856992	p.Thr540Ala	missense variant	-	NC_000003.12:g.193647093A>G	ExAC,gnomAD
rs765073068	p.Thr541Ile	missense variant	-	NC_000003.12:g.193647097C>T	ExAC,gnomAD
rs919851274	p.Arg542Gly	missense variant	-	NC_000003.12:g.193647099A>G	TOPMed
rs1158710912	p.Leu544Val	missense variant	-	NC_000003.12:g.193647105T>G	gnomAD
rs398124298	p.Ser545Arg	missense variant	-	NC_000003.12:g.193647110C>A	-
rs398124298	p.Ser545Arg	missense variant	-	NC_000003.12:g.193647110C>G	-
RCV000175211	p.Ser545Arg	missense variant	-	NC_000003.12:g.193647110C>A	ClinVar
RCV000023415	p.Ser545Arg	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193647110C>G	ClinVar
RCV000508898	p.Ser545Arg	missense variant	Mitochondrial diseases	NC_000003.12:g.193647110C>G	ClinVar
rs1131691441	p.Asp550Tyr	missense variant	-	NC_000003.12:g.193647123G>T	TOPMed,gnomAD
RCV000484149	p.Asp550Ter	frameshift	-	NC_000003.12:g.193647124del	ClinVar
RCV000494604	p.Asp550Tyr	missense variant	-	NC_000003.12:g.193647123G>T	ClinVar
VAR_060849	p.Asp550Asn	Missense	-	-	UniProt
rs879255592	p.Cys551Tyr	missense variant	-	NC_000003.12:g.193647127G>A	-
rs879255592	p.Cys551Tyr	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193647127G>A	UniProt,dbSNP
VAR_060851	p.Cys551Tyr	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193647127G>A	UniProt
RCV000210742	p.Cys551Tyr	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193647127G>A	ClinVar
VAR_060850	p.Cys551del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
RCV000762130	p.Phe552Leu	missense variant	-	NC_000003.12:g.193647129T>C	ClinVar
rs1210297472	p.Met555Ile	missense variant	-	NC_000003.12:g.193647140G>T	gnomAD
rs398124299	p.Arg557Ter	stop gained	-	NC_000003.12:g.193647144C>T	ExAC,gnomAD
RCV000081753	p.Arg557Ter	nonsense	-	NC_000003.12:g.193647144C>T	ClinVar
rs1438303929	p.Arg557Gln	missense variant	-	NC_000003.12:g.193647145G>A	gnomAD
RCV000519220	p.Glu558Ala	missense variant	-	NC_000003.12:g.193647148A>C	ClinVar
rs949979832	p.Glu558Ala	missense variant	-	NC_000003.12:g.193647148A>C	TOPMed,gnomAD
rs1157991384	p.Glu561Gln	missense variant	-	NC_000003.12:g.193647156G>C	TOPMed
rs1255428605	p.Gln562Arg	missense variant	-	NC_000003.12:g.193647160A>G	gnomAD
rs779785513	p.Ser566Gly	missense variant	-	NC_000003.12:g.193647171A>G	ExAC,TOPMed,gnomAD
rs1553879126	p.Lys568Arg	missense variant	-	NC_000003.12:g.193647178A>G	-
RCV000521087	p.Lys568Arg	missense variant	-	NC_000003.12:g.193647178A>G	ClinVar
rs1553879362	p.Ala569Glu	missense variant	-	NC_000003.12:g.193648070C>A	-
RCV000585011	p.Ala569Glu	missense variant	-	NC_000003.12:g.193648070C>A	ClinVar
rs762902650	p.Arg571Cys	missense variant	-	NC_000003.12:g.193648075C>T	ExAC,gnomAD
RCV000709922	p.Arg571His	missense variant	Optic atrophy	NC_000003.12:g.193648076G>A	ClinVar
rs140606054	p.Arg571His	missense variant	-	NC_000003.12:g.193648076G>A	ESP,ExAC,TOPMed,gnomAD
VAR_060852	p.Leu574Pro	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs751326555	p.Glu575Lys	missense variant	-	NC_000003.12:g.193648087G>A	ExAC,gnomAD
rs754836661	p.Trp578Ter	stop gained	-	NC_000003.12:g.193648097G>A	ExAC,gnomAD
rs121908376	p.Tyr582Cys	missense variant	-	NC_000003.12:g.193648109A>G	-
rs121908376	p.Tyr582Cys	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193648109A>G	UniProt,dbSNP
VAR_060853	p.Tyr582Cys	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193648109A>G	UniProt
RCV000005395	p.Tyr582Cys	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193648109A>G	ClinVar
rs760300107	p.Arg584Cys	missense variant	-	NC_000003.12:g.193648114C>T	ExAC,TOPMed,gnomAD
rs760300107	p.Arg584Gly	missense variant	-	NC_000003.12:g.193648114C>G	ExAC,TOPMed,gnomAD
rs754022891	p.Arg584His	missense variant	-	NC_000003.12:g.193648115G>A	ExAC,TOPMed,gnomAD
rs1465904230	p.Arg586Trp	missense variant	-	NC_000003.12:g.193648120C>T	gnomAD
VAR_022930	p.Arg586_Asp589del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs147077380	p.Arg590Gln	missense variant	-	NC_000003.12:g.193648133G>A	ESP,ExAC,TOPMed,gnomAD
rs147077380	p.Arg590Gln	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648133G>A	UniProt,dbSNP
VAR_060854	p.Arg590Gln	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648133G>A	UniProt
rs778998909	p.Arg590Trp	missense variant	-	NC_000003.12:g.193648132C>T	ExAC,gnomAD
rs778998909	p.Arg590Trp	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648132C>T	UniProt,dbSNP
VAR_060855	p.Arg590Trp	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648132C>T	UniProt
rs147077380	p.Arg590Leu	missense variant	-	NC_000003.12:g.193648133G>T	ESP,ExAC,TOPMed,gnomAD
rs1219357312	p.Asn591Ser	missense variant	-	NC_000003.12:g.193648796A>G	TOPMed
rs138503909	p.Asn591Asp	missense variant	-	NC_000003.12:g.193648795A>G	ESP,TOPMed
VAR_060856	p.Leu593Pro	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
VAR_072131	p.Leu593del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs886042514	p.Phe594Ser	missense variant	-	NC_000003.12:g.193648805T>C	-
RCV000289523	p.Phe594Ser	missense variant	-	NC_000003.12:g.193648805T>C	ClinVar
rs748514298	p.Lys596Arg	missense variant	-	NC_000003.12:g.193648811A>G	ExAC,gnomAD
rs1286145767	p.Ala597Val	missense variant	-	NC_000003.12:g.193648814C>T	TOPMed
rs1284704814	p.Lys598Glu	missense variant	-	NC_000003.12:g.193648816A>G	TOPMed,gnomAD
rs1488406021	p.Asn599Thr	missense variant	-	NC_000003.12:g.193648820A>C	gnomAD
rs769460409	p.Ile601Val	missense variant	-	NC_000003.12:g.193648825A>G	ExAC,TOPMed,gnomAD
rs1043124113	p.Ile606Val	missense variant	-	NC_000003.12:g.193648840A>G	TOPMed
rs1264974051	p.Ile606Thr	missense variant	-	NC_000003.12:g.193648841T>C	gnomAD
rs1437760364	p.Ser609Asn	missense variant	-	NC_000003.12:g.193648850G>A	gnomAD
rs1396736267	p.Ser609Gly	missense variant	-	NC_000003.12:g.193648849A>G	gnomAD
rs748821757	p.Gln610Arg	missense variant	-	NC_000003.12:g.193648853A>G	ExAC,gnomAD
rs200756304	p.Val611Ile	missense variant	-	NC_000003.12:g.193648855G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200756304	p.Val611Leu	missense variant	-	NC_000003.12:g.193648855G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs146601330	p.Lys614Ile	missense variant	-	NC_000003.12:g.193648865A>T	ESP,ExAC,TOPMed,gnomAD
RCV000199313	p.Lys614Ile	missense variant	-	NC_000003.12:g.193648865A>T	ClinVar
rs1174134489	p.Glu617Lys	missense variant	-	NC_000003.12:g.193654863G>A	TOPMed
rs1240919699	p.Gln622Arg	missense variant	-	NC_000003.12:g.193654879A>G	gnomAD
rs772040791	p.Arg627Lys	missense variant	-	NC_000003.12:g.193654894G>A	ExAC,TOPMed,gnomAD
RCV000484249	p.Arg627Lys	missense variant	-	NC_000003.12:g.193654894G>A	ClinVar
rs745420039	p.Arg627Gly	missense variant	-	NC_000003.12:g.193654893A>G	ExAC,gnomAD
rs1178855337	p.His631Gln	missense variant	-	NC_000003.12:g.193654907T>A	TOPMed
rs923926484	p.His631Arg	missense variant	-	NC_000003.12:g.193654906A>G	TOPMed
rs1480952132	p.Ile633Leu	missense variant	-	NC_000003.12:g.193654911A>C	TOPMed
rs1207347731	p.Tyr637Cys	missense variant	-	NC_000003.12:g.193654924A>G	TOPMed
rs776520906	p.Ala640Ser	missense variant	-	NC_000003.12:g.193654932G>T	ExAC,gnomAD
rs1315893899	p.Ala641Val	missense variant	-	NC_000003.12:g.193654936C>T	gnomAD
rs766758148	p.Met644Val	missense variant	-	NC_000003.12:g.193654944A>G	ExAC,gnomAD
rs142694017	p.Asn645Ser	missense variant	-	NC_000003.12:g.193654948A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000756448	p.Asn645Ser	missense variant	-	NC_000003.12:g.193654948A>G	ClinVar
VAR_060857	p.Ser646Leu	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs755177892	p.Thr648Ser	missense variant	-	NC_000003.12:g.193654957C>G	ExAC,TOPMed,gnomAD
rs549869162	p.Phe649Ser	missense variant	-	NC_000003.12:g.193654960T>C	1000Genomes
rs753092180	p.Ile655Met	missense variant	-	NC_000003.12:g.193654979C>G	ExAC,gnomAD
rs1423458322	p.Ile655Val	missense variant	-	NC_000003.12:g.193654977A>G	gnomAD
rs1477023151	p.Lys658Arg	missense variant	-	NC_000003.12:g.193654987A>G	gnomAD
RCV000518460	p.Trp660Arg	missense variant	-	NC_000003.12:g.193654992T>C	ClinVar
RCV000658330	p.Trp660Arg	missense variant	-	NC_000003.12:g.193654992T>C	ClinVar
rs1553881180	p.Trp660Arg	missense variant	-	NC_000003.12:g.193654992T>C	-
rs1379001496	p.Asp662Tyr	missense variant	-	NC_000003.12:g.193654998G>T	TOPMed
rs777947380	p.Lys663Asn	missense variant	-	NC_000003.12:g.193655003A>C	ExAC,TOPMed,gnomAD
rs756868815	p.Pro666His	missense variant	-	NC_000003.12:g.193655011C>A	ExAC
rs778601778	p.Asn667Asp	missense variant	-	NC_000003.12:g.193655013A>G	ExAC,gnomAD
rs745367183	p.Asn667Ser	missense variant	-	NC_000003.12:g.193655014A>G	ExAC,gnomAD
rs1400914862	p.Lys668Asn	missense variant	-	NC_000003.12:g.193655018A>C	gnomAD
rs367611411	p.Glu679Val	missense variant	-	NC_000003.12:g.193657102A>T	ESP,gnomAD
rs1216211706	p.Glu680Val	missense variant	-	NC_000003.12:g.193657105A>T	gnomAD
rs917252521	p.Ser682Pro	missense variant	-	NC_000003.12:g.193657110T>C	TOPMed,gnomAD
rs917252521	p.Ser682Thr	missense variant	-	NC_000003.12:g.193657110T>A	TOPMed,gnomAD
rs542540811	p.Arg683His	missense variant	-	NC_000003.12:g.193657114G>A	ExAC,TOPMed,gnomAD
rs1023896326	p.Met685Leu	missense variant	-	NC_000003.12:g.193657119A>C	gnomAD
rs1455097606	p.Thr686Ala	missense variant	-	NC_000003.12:g.193657122A>G	gnomAD
rs758100951	p.Glu687Gly	missense variant	-	NC_000003.12:g.193657126A>G	ExAC,TOPMed,gnomAD
RCV000176222	p.Glu687Ter	frameshift	-	NC_000003.12:g.193657125_193657126del	ClinVar
rs779383230	p.Pro688Ser	missense variant	-	NC_000003.12:g.193657128C>T	ExAC,TOPMed,gnomAD
rs746579947	p.Pro688Leu	missense variant	-	NC_000003.12:g.193657129C>T	ExAC,TOPMed,gnomAD
rs746579947	p.Pro688Arg	missense variant	-	NC_000003.12:g.193657129C>G	ExAC,TOPMed,gnomAD
rs779383230	p.Pro688Ala	missense variant	-	NC_000003.12:g.193657128C>G	ExAC,TOPMed,gnomAD
rs961676005	p.Ile696Val	missense variant	-	NC_000003.12:g.193657152A>G	TOPMed
rs1371621273	p.Ile696Thr	missense variant	-	NC_000003.12:g.193657153T>C	gnomAD
rs1334307405	p.Asp698Val	missense variant	-	NC_000003.12:g.193657159A>T	TOPMed
rs773148357	p.Leu700Phe	missense variant	-	NC_000003.12:g.193657164C>T	ExAC,gnomAD
VAR_060858	p.Leu700_Lys701del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1053264098	p.Glu702Ala	missense variant	-	NC_000003.12:g.193657171A>C	TOPMed
rs1285173467	p.Val704Ile	missense variant	-	NC_000003.12:g.193657176G>A	TOPMed,gnomAD
rs1318965694	p.Lys705Gln	missense variant	-	NC_000003.12:g.193657179A>C	gnomAD
rs1429789663	p.Ser708Asn	missense variant	-	NC_000003.12:g.193657189G>A	TOPMed
rs1051242775	p.Ser708Arg	missense variant	-	NC_000003.12:g.193657190T>G	TOPMed,gnomAD
rs748872103	p.Ser708Gly	missense variant	-	NC_000003.12:g.193657188A>G	TOPMed,gnomAD
rs772382178	p.Lys710Glu	missense variant	-	NC_000003.12:g.193657194A>G	ExAC,TOPMed,gnomAD
RCV000756450	p.Arg711Ter	nonsense	-	NC_000003.12:g.193657197C>T	ClinVar
rs863224906	p.Arg711Ter	stop gained	-	NC_000003.12:g.193657197C>T	-
rs1177278443	p.His712Arg	missense variant	-	NC_000003.12:g.193657201A>G	TOPMed,gnomAD
rs1371274631	p.Trp714Ter	stop gained	-	NC_000003.12:g.193657207G>A	TOPMed,gnomAD
rs1409629579	p.Ala718Val	missense variant	-	NC_000003.12:g.193657219C>T	TOPMed,gnomAD
rs199925668	p.Glu719Gly	missense variant	-	NC_000003.12:g.193657222A>G	1000Genomes,ExAC,gnomAD
rs1394991054	p.Asp720Asn	missense variant	-	NC_000003.12:g.193657224G>A	gnomAD
rs756156167	p.Ile725Val	missense variant	-	NC_000003.12:g.193658893A>G	ExAC,gnomAD
rs1292852465	p.Asn728Lys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193658904T>G	UniProt,dbSNP
VAR_060859	p.Asn728Lys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193658904T>G	UniProt
rs1292852465	p.Asn728Lys	missense variant	-	NC_000003.12:g.193658904T>G	gnomAD
rs749143995	p.Asn728Ser	missense variant	-	NC_000003.12:g.193658903A>G	ExAC,TOPMed,gnomAD
rs1356373726	p.Arg733Gln	missense variant	-	NC_000003.12:g.193658918G>A	TOPMed,gnomAD
RCV000497995	p.Arg733Ter	nonsense	-	NC_000003.12:g.193658917C>T	ClinVar
rs1553784985	p.Arg733Ter	stop gained	-	NC_000003.12:g.193658917C>T	-
rs1235460617	p.Ile735Thr	missense variant	-	NC_000003.12:g.193658924T>C	gnomAD
rs1223646365	p.Ile735Val	missense variant	-	NC_000003.12:g.193658923A>G	TOPMed
rs201226384	p.Asp742Glu	missense variant	-	NC_000003.12:g.193658946T>G	ESP,ExAC,TOPMed,gnomAD
rs1216895678	p.Ile745Val	missense variant	-	NC_000003.12:g.193658953A>G	TOPMed
RCV000516638	p.Phe747Ter	frameshift	-	NC_000003.12:g.193658961del	ClinVar
rs1340689631	p.Met748Val	missense variant	-	NC_000003.12:g.193658962A>G	TOPMed
rs1274466249	p.Glu750Asp	missense variant	-	NC_000003.12:g.193658970G>T	gnomAD
rs376321869	p.Ala751Thr	missense variant	-	NC_000003.12:g.193658971G>A	ESP,ExAC,TOPMed,gnomAD
RCV000734151	p.Leu752Pro	missense variant	-	NC_000003.12:g.193658975T>C	ClinVar
rs398124301	p.Gln753Ter	stop gained	-	NC_000003.12:g.193658977C>T	-
RCV000176319	p.Gln753Ter	nonsense	-	NC_000003.12:g.193658977C>T	ClinVar
rs762258708	p.Arg755His	missense variant	-	NC_000003.12:g.193658984G>A	ExAC,TOPMed,gnomAD
rs1257694738	p.Arg755Gly	missense variant	-	NC_000003.12:g.193658983C>G	gnomAD
RCV000498081	p.Arg755His	missense variant	-	NC_000003.12:g.193658984G>A	ClinVar
rs1191223125	p.Lys757Gln	missense variant	-	NC_000003.12:g.193658989A>C	gnomAD
rs773419160	p.Asp758Asn	missense variant	-	NC_000003.12:g.193658992G>A	ExAC,gnomAD
rs763443222	p.Thr759Ala	missense variant	-	NC_000003.12:g.193658995A>G	ExAC,TOPMed,gnomAD
rs771263962	p.Ile763Val	missense variant	-	NC_000003.12:g.193659493A>G	ExAC,TOPMed,gnomAD
rs1440910404	p.Val767Met	missense variant	-	NC_000003.12:g.193659505G>A	gnomAD
VAR_060860	p.Gly768Asp	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs774613690	p.Pro769Ala	missense variant	-	NC_000003.12:g.193659511C>G	ExAC,gnomAD
rs759219445	p.Lys772Arg	missense variant	-	NC_000003.12:g.193659521A>G	ExAC,gnomAD
rs1018698828	p.Lys773Arg	missense variant	-	NC_000003.12:g.193659524A>G	gnomAD
rs1287548904	p.Trp775Leu	missense variant	-	NC_000003.12:g.193659530G>T	gnomAD
rs1553785338	p.Trp778Ter	stop gained	-	NC_000003.12:g.193659540G>A	-
RCV000517407	p.Trp778Ter	nonsense	-	NC_000003.12:g.193659540G>A	ClinVar
rs1254838960	p.Arg781Gln	missense variant	-	NC_000003.12:g.193659548G>A	TOPMed,gnomAD
rs190235251	p.Arg781Gly	missense variant	-	NC_000003.12:g.193659547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs190235251	p.Arg781Trp	missense variant	-	NC_000003.12:g.193659547C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000287680	p.Arg781Trp	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193659547C>T	ClinVar
rs118203755	p.Gln783Arg	missense variant	-	NC_000003.12:g.193659554A>G	ExAC,gnomAD
rs757170951	p.Glu784Gly	missense variant	-	NC_000003.12:g.193659557A>G	ExAC,gnomAD
rs1064797302	p.Gln785Arg	missense variant	-	NC_000003.12:g.193659560A>G	-
rs1064797302	p.Gln785Arg	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193659560A>G	UniProt,dbSNP
VAR_060862	p.Gln785Arg	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193659560A>G	UniProt
RCV000488050	p.Gln785Arg	missense variant	-	NC_000003.12:g.193659560A>G	ClinVar
rs1204197719	p.Gln785His	missense variant	-	NC_000003.12:g.193659561G>C	TOPMed
rs200428940	p.Asn789Ser	missense variant	-	NC_000003.12:g.193662832A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1460970860	p.Asn789Asp	missense variant	-	NC_000003.12:g.193662831A>G	TOPMed,gnomAD
rs1460970860	p.Asn789His	missense variant	-	NC_000003.12:g.193662831A>C	TOPMed,gnomAD
rs758248456	p.Asn793Lys	missense variant	-	NC_000003.12:g.193662845T>A	ExAC,TOPMed,gnomAD
RCV000729248	p.Glu794Ter	frameshift	-	NC_000003.12:g.193662848_193662849del	ClinVar
rs1553786499	p.Glu796Ter	stop gained	-	NC_000003.12:g.193662852G>T	-
RCV000512693	p.Glu796Ter	nonsense	-	NC_000003.12:g.193662852G>T	ClinVar
rs779838884	p.Met798Val	missense variant	-	NC_000003.12:g.193662858A>G	ExAC
rs777863747	p.Ala810Thr	missense variant	-	NC_000003.12:g.193662894G>A	ExAC,gnomAD
rs771460472	p.Ile814Val	missense variant	-	NC_000003.12:g.193662906A>G	ExAC
rs954754062	p.Arg818Gln	missense variant	-	NC_000003.12:g.193662919G>A	TOPMed,gnomAD
rs143252541	p.Arg818Trp	missense variant	-	NC_000003.12:g.193662918C>T	ESP,ExAC,TOPMed,gnomAD
RCV000498253	p.Arg818Trp	missense variant	-	NC_000003.12:g.193662918C>T	ClinVar
rs370507491	p.Glu822Val	missense variant	-	NC_000003.12:g.193662931A>T	ESP,ExAC,TOPMed
rs372766468	p.Ser823Pro	missense variant	-	NC_000003.12:g.193662933T>C	ESP,ExAC,gnomAD
VAR_060863	p.Ser823Tyr	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs200412464	p.Arg824Gln	missense variant	-	NC_000003.12:g.193662937G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs879255593	p.Arg824Ter	stop gained	-	NC_000003.12:g.193662936C>T	-
RCV000210747	p.Arg824Ter	nonsense	Abortive cerebellar ataxia (BEHRS)	NC_000003.12:g.193662936C>T	ClinVar
RCV000487683	p.Arg824Gln	missense variant	-	NC_000003.12:g.193662937G>A	ClinVar
rs765208285	p.Glu827Lys	missense variant	-	NC_000003.12:g.193662945G>A	ExAC,TOPMed,gnomAD
rs773078058	p.Val828Ile	missense variant	-	NC_000003.12:g.193662948G>A	ExAC,gnomAD
rs1421273845	p.Ser831Asn	missense variant	-	NC_000003.12:g.193662958G>A	TOPMed
rs772742121	p.Thr836Ile	missense variant	-	NC_000003.12:g.193664890C>T	ExAC,gnomAD
rs905919862	p.Val840Ile	missense variant	-	NC_000003.12:g.193664901G>A	TOPMed,gnomAD
rs1175079347	p.Tyr841Phe	missense variant	-	NC_000003.12:g.193664905A>T	gnomAD
VAR_060864	p.Tyr841Cys	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs762831954	p.His844Arg	missense variant	-	NC_000003.12:g.193664914A>G	ExAC,gnomAD
rs759303917	p.Leu850Val	missense variant	-	NC_000003.12:g.193664931C>G	ExAC,TOPMed,gnomAD
rs767354521	p.His852Gln	missense variant	-	NC_000003.12:g.193664939T>G	ExAC,gnomAD
rs753938624	p.Leu855Ile	missense variant	-	NC_000003.12:g.193664946C>A	ExAC,gnomAD
rs139106405	p.Leu855Arg	missense variant	-	NC_000003.12:g.193664947T>G	ESP,ExAC,TOPMed,gnomAD
RCV000729362	p.Leu855Arg	missense variant	-	NC_000003.12:g.193664947T>G	ClinVar
rs765357854	p.Cys856Ser	missense variant	-	NC_000003.12:g.193664949T>A	ExAC,gnomAD
rs1215497493	p.Arg857Gln	missense variant	-	NC_000003.12:g.193664953G>A	gnomAD
rs794727405	p.Arg857Ter	stop gained	-	NC_000003.12:g.193664952C>T	-
RCV000199431	p.Arg857Ter	nonsense	-	NC_000003.12:g.193664952C>T	ClinVar
rs1261746583	p.Arg858Thr	missense variant	-	NC_000003.12:g.193664956G>C	gnomAD
rs893422727	p.Gly859Val	missense variant	-	NC_000003.12:g.193664959G>T	TOPMed
rs112388167	p.Tyr861Cys	missense variant	-	NC_000003.12:g.193664965A>G	ExAC,gnomAD
rs1192362976	p.Arg865Ser	missense variant	-	NC_000003.12:g.193664978G>C	TOPMed,gnomAD
rs556711091	p.His866Arg	missense variant	-	NC_000003.12:g.193664980A>G	1000Genomes,ExAC,gnomAD
rs780773698	p.Val868Leu	missense variant	-	NC_000003.12:g.193664985G>T	ExAC,gnomAD
rs780773698	p.Val868Ile	missense variant	-	NC_000003.12:g.193664985G>A	ExAC,gnomAD
rs1170133760	p.Val877Met	missense variant	-	NC_000003.12:g.193666311G>A	TOPMed
rs368227232	p.Arg882Cys	missense variant	-	NC_000003.12:g.193666326C>T	ESP,ExAC,gnomAD
VAR_060865	p.Arg882Leu	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1177373525	p.Ile883Met	missense variant	-	NC_000003.12:g.193666331A>G	TOPMed,gnomAD
rs149866497	p.Ile883Val	missense variant	-	NC_000003.12:g.193666329A>G	ESP,ExAC,TOPMed,gnomAD
RCV000195791	p.Ile883Val	missense variant	-	NC_000003.12:g.193666329A>G	ClinVar
rs937546860	p.Arg885His	missense variant	-	NC_000003.12:g.193666336G>A	TOPMed,gnomAD
rs927450242	p.Arg885Cys	missense variant	-	NC_000003.12:g.193666335C>T	TOPMed,gnomAD
RCV000273669	p.Arg885Ter	frameshift	-	NC_000003.12:g.193666333dup	ClinVar
rs745913434	p.Met886Val	missense variant	-	NC_000003.12:g.193666338A>G	gnomAD
rs1204428154	p.Met886Thr	missense variant	-	NC_000003.12:g.193666339T>C	TOPMed
VAR_060866	p.Leu887Pro	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs1463006313	p.Ala888Asp	missense variant	-	NC_000003.12:g.193666345C>A	gnomAD
rs532733755	p.Ala891Thr	missense variant	-	NC_000003.12:g.193666353G>A	1000Genomes,TOPMed,gnomAD
rs750518068	p.Asn892Thr	missense variant	-	NC_000003.12:g.193666357A>C	ExAC,TOPMed,gnomAD
RCV000195859	p.Asn892Thr	missense variant	-	NC_000003.12:g.193666357A>C	ClinVar
rs763191488	p.Thr893Ala	missense variant	-	NC_000003.12:g.193666359A>G	ExAC,gnomAD
rs1231786410	p.Leu898Val	missense variant	-	NC_000003.12:g.193666374C>G	gnomAD
rs1231786410	p.Leu898Phe	missense variant	-	NC_000003.12:g.193666374C>T	gnomAD
rs1293122850	p.Asn900Ile	missense variant	-	NC_000003.12:g.193666381A>T	gnomAD
rs1336102265	p.Thr901Ile	missense variant	-	NC_000003.12:g.193666384C>T	gnomAD
rs921531106	p.Glu902Lys	missense variant	-	NC_000003.12:g.193666386G>A	TOPMed
rs1010061895	p.Val903Gly	missense variant	-	NC_000003.12:g.193667170T>G	TOPMed
rs763280368	p.Arg905Gln	missense variant	-	NC_000003.12:g.193667176G>A	ExAC,TOPMed,gnomAD
rs863224138	p.Glu907Gly	missense variant	-	NC_000003.12:g.193667182A>G	UniProt,dbSNP
VAR_060867	p.Glu907Gly	missense variant	-	NC_000003.12:g.193667182A>G	UniProt
rs863224138	p.Glu907Gly	missense variant	-	NC_000003.12:g.193667182A>G	gnomAD
RCV000197741	p.Glu907Gly	missense variant	-	NC_000003.12:g.193667182A>G	ClinVar
RCV000519360	p.Asn909Ter	frameshift	-	NC_000003.12:g.193667189_193667193del	ClinVar
rs387906901	p.Val910Asp	missense variant	-	NC_000003.12:g.193667191T>A	-
rs387906901	p.Val910Asp	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193667191T>A	UniProt,dbSNP
VAR_072132	p.Val910Asp	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193667191T>A	UniProt
RCV000023417	p.Val910Asp	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193667191T>A	ClinVar
VAR_072133	p.Val910del	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs863224139	p.Val913Leu	missense variant	-	NC_000003.12:g.193667199G>T	-
RCV000200057	p.Val913Leu	missense variant	-	NC_000003.12:g.193667199G>T	ClinVar
rs768115265	p.Asp916Val	missense variant	-	NC_000003.12:g.193667209A>T	ExAC,gnomAD
rs1326349949	p.Phe917Leu	missense variant	-	NC_000003.12:g.193667213T>G	TOPMed,gnomAD
rs1432160044	p.Asp920Gly	missense variant	-	NC_000003.12:g.193667221A>G	gnomAD
rs1432160044	p.Asp920Ala	missense variant	-	NC_000003.12:g.193667221A>C	gnomAD
RCV000585286	p.Asp920Ter	nonsense	-	NC_000003.12:g.193667223_193667236del	ClinVar
rs752986280	p.Gly921Cys	missense variant	-	NC_000003.12:g.193667223G>T	ExAC,gnomAD
rs1366871388	p.Gly921Asp	missense variant	-	NC_000003.12:g.193667224G>A	TOPMed
rs1232966048	p.Ile925Ser	missense variant	-	NC_000003.12:g.193667236T>G	TOPMed,gnomAD
rs1160551128	p.Arg932His	missense variant	-	NC_000003.12:g.193667257G>A	TOPMed,gnomAD
rs145710079	p.Arg932Cys	missense variant	-	NC_000003.12:g.193667256C>T	ESP,ExAC,TOPMed,gnomAD
rs145710079	p.Arg932Cys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193667256C>T	UniProt,dbSNP
VAR_060868	p.Arg932Cys	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193667256C>T	UniProt
RCV000489553	p.Val933Ile	missense variant	-	NC_000003.12:g.193667259G>A	ClinVar
rs375733283	p.Val933Ile	missense variant	-	NC_000003.12:g.193667259G>A	ESP,ExAC,TOPMed,gnomAD
rs369942555	p.Gln934His	missense variant	-	NC_000003.12:g.193667264A>C	ESP,ExAC,TOPMed,gnomAD
rs1219972173	p.Gln934Glu	missense variant	-	NC_000003.12:g.193667262C>G	TOPMed
rs756937966	p.Gln934Arg	missense variant	-	NC_000003.12:g.193667263A>G	ExAC,gnomAD
rs1340237932	p.Glu937Gly	missense variant	-	NC_000003.12:g.193667272A>G	TOPMed
rs1272220841	p.Asp938Glu	missense variant	-	NC_000003.12:g.193667276C>G	TOPMed
rs1251088119	p.Asp938Asn	missense variant	-	NC_000003.12:g.193667274G>A	gnomAD
VAR_028370	p.Leu939Pro	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
rs780106471	p.Lys940Glu	missense variant	-	NC_000003.12:g.193667280A>G	ExAC,gnomAD
RCV000300226	p.Lys941Ter	frameshift	-	NC_000003.12:g.193692066_193692067del	ClinVar
rs1022933274	p.Val942Leu	missense variant	-	NC_000003.12:g.193692068G>C	TOPMed,gnomAD
rs1022933274	p.Val942Ile	missense variant	-	NC_000003.12:g.193692068G>A	TOPMed,gnomAD
RCV000005393	p.Arg943Ter	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193692070del	ClinVar
rs1239219727	p.Gln946Glu	missense variant	-	NC_000003.12:g.193692080C>G	TOPMed
rs780323593	p.Lys948Gln	missense variant	-	NC_000003.12:g.193692086A>C	ExAC,gnomAD
rs747237694	p.Leu949Val	missense variant	-	NC_000003.12:g.193692089C>G	ExAC,gnomAD
rs747237694	p.Leu949Ile	missense variant	-	NC_000003.12:g.193692089C>A	ExAC,gnomAD
VAR_060869	p.Leu949Pro	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
RCV000023413	p.Asp950Ter	frameshift	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193692092_193692093del	ClinVar
rs1351216772	p.Asp950Glu	missense variant	-	NC_000003.12:g.193692094T>G	TOPMed
RCV000005397	p.Asp950Ter	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193692092_193692093del	ClinVar
rs577055148	p.Ala951Gly	missense variant	-	NC_000003.12:g.193692096C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1166323851	p.Ala951Thr	missense variant	-	NC_000003.12:g.193692095G>A	gnomAD
RCV000516837	p.Phe952Ter	nonsense	-	NC_000003.12:g.193692092_193692098dup	ClinVar
rs781270720	p.Ile953Thr	missense variant	-	NC_000003.12:g.193692102T>C	ExAC,TOPMed,gnomAD
rs189036094	p.Glu954Asp	missense variant	-	NC_000003.12:g.193692106A>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000726784	p.Glu954Asp	missense variant	-	NC_000003.12:g.193692106A>C	ClinVar
rs1300520291	p.Ala955Thr	missense variant	-	NC_000003.12:g.193692107G>A	TOPMed
rs1449821560	p.Ala955Val	missense variant	-	NC_000003.12:g.193692108C>T	TOPMed
rs868448372	p.Leu956Phe	missense variant	-	NC_000003.12:g.193692110C>T	TOPMed,gnomAD
rs868448372	p.Leu956Ile	missense variant	-	NC_000003.12:g.193692110C>A	TOPMed,gnomAD
rs1346813499	p.His957Tyr	missense variant	-	NC_000003.12:g.193692113C>T	gnomAD
rs1221865839	p.Lys960Glu	missense variant	-	NC_000003.12:g.193692122A>G	gnomAD
rs143929819	p.Ter961Tyr	stop lost	-	NC_000003.12:g.193692127A>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000176886	p.Ter961Tyr	stop lost	-	NC_000003.12:g.193692127A>C	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001125	Acidosis, Lactic	phenotype	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0003463	Anus Neoplasms	group	BEFREE
C0003578	Apnea	phenotype	HPO
C0004134	Ataxia	phenotype	LHGDN
C0005745	Blepharoptosis	disease	HPO
C0006157	Breech Presentation	phenotype	HPO
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007194	Hypertrophic Cardiomyopathy	disease	BEFREE;HPO
C0007758	Cerebellar Ataxia	phenotype	BEFREE;HPO
C0007787	Transient Ischemic Attack	disease	RGD
C0007959	Charcot-Marie-Tooth Disease	disease	BEFREE
C0009398	Color vision defect	phenotype	BEFREE;HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011053	Deafness	phenotype	LHGDN
C0011265	Presenile dementia	disease	BEFREE
C0015695	Fatty Liver	disease	RGD
C0015696	Fatty Liver, Alcoholic	disease	RGD
C0017205	Gaucher Disease	disease	BEFREE
C0017601	Glaucoma	disease	BEFREE;LHGDN
C0017612	Glaucoma, Open-Angle	disease	BEFREE;LHGDN
C0018780	Hearing Loss, High-Frequency	disease	BEFREE
C0018784	Sensorineural Hearing Loss (disorder)	disease	BEFREE;HPO;LHGDN
C0018798	Congenital Heart Defects	group	BEFREE
C0018801	Heart failure	disease	RGD
C0018802	Congestive heart failure	disease	RGD
C0019202	Hepatolenticular Degeneration	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE;RGD
C0022661	Kidney Failure, Chronic	disease	RGD
C0025362	Mental Retardation	disease	HPO
C0026848	Myopathy	group	BEFREE;HPO
C0027051	Myocardial Infarction	disease	RGD
C0027765	nervous system disorder	group	BEFREE
C0027873	Neuromyelitis Optica	disease	BEFREE
C0028738	Nystagmus	disease	BEFREE;HPO
C0028840	Ocular Hypertension	disease	RGD
C0029089	Ophthalmoplegia	phenotype	BEFREE;HPO;LHGDN
C0029124	Optic Atrophy	disease	BEFREE;HPO;LHGDN;MGD
C0029125	Optic Atrophies, Hereditary	group	BEFREE
C0029132	Disorder of the optic nerve	group	BEFREE;LHGDN
C0029408	Degenerative polyarthritis	disease	CTD_human
C0031117	Peripheral Neuropathy	group	BEFREE;HPO
C0034935	Babinski Reflex	phenotype	HPO
C0035304	Retinal Degeneration	phenotype	HPO
C0035455	Rhinitis	disease	RGD
C0036341	Schizophrenia	disease	BEFREE;LHGDN;PSYGENET
C0037771	Paraparesis, Spastic	phenotype	BEFREE
C0038379	Strabismus	disease	HPO
C0038454	Cerebrovascular accident	group	BEFREE
C0040822	Tremor	phenotype	HPO
C0042798	Low Vision	disease	HPO
C0086543	Cataract	disease	BEFREE
C0086743	Osteoarthrosis Deformans	disease	CTD_human
C0151818	Opisthotonus	phenotype	HPO
C0151889	Hyperreflexia	phenotype	HPO
C0152136	Low Tension Glaucoma	disease	BEFREE
C0152191	Scotoma, Central	phenotype	HPO
C0155016	Color Blindness, Red-Green	disease	HPO
C0155017	Color Blindness, Blue	disease	HPO
C0155728	Other specified transient cerebral ischemias	disease	RGD
C0162292	External Ophthalmoplegia	disease	BEFREE
C0162666	Mitochondrial Encephalomyopathies	group	LHGDN
C0162670	Mitochondrial Myopathies	group	BEFREE
C0162672	MERRF Syndrome	disease	BEFREE
C0162674	Chronic progressive external ophthalmoplegia	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0221061	Behr syndrome	disease	CLINVAR;CTD_human;UNIPROT
C0234162	Cerebellar Dysmetria	phenotype	HPO
C0234629	Abnormal color vision	phenotype	HPO
C0234632	Reduced visual acuity	phenotype	HPO
C0234860	Weak cry	phenotype	HPO
C0234958	Muscle degeneration	disease	BEFREE;HPO
C0242225	Color blindness	disease	BEFREE
C0242422	Parkinsonian Disorders	group	BEFREE
C0262404	Cerebellar degeneration	disease	HPO
C0268237	Cytochrome-c Oxidase Deficiency	disease	BEFREE
C0270948	Neurogenic Muscular Atrophy	phenotype	HPO
C0271196	Scotoma, Centrocecal	phenotype	HPO
C0271215	Blindness, Legal	disease	BEFREE
C0271385	Horizontal Nystagmus	disease	HPO
C0338508	Optic Atrophy, Autosomal Dominant	disease	BEFREE;CLINVAR;CTD_human;LHGDN;ORPHANET;UNIPROT
C0339573	Glaucoma, Primary Open Angle	disease	BEFREE
C0410264	Contracture of tendo achilles	phenotype	HPO
C0410266	Contracture of hamstring(s)	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0428883	Diastolic blood pressure	phenotype	GWASCAT
C0442874	Neuropathy	group	HPO
C0497327	Dementia	disease	BEFREE
C0521694	Atrophic retina	disease	BEFREE
C0522216	Abnormal auditory evoked potential	phenotype	HPO
C0524851	Neurodegenerative Disorders	group	BEFREE
C0541794	Skeletal muscle atrophy	phenotype	HPO
C0574084	3-Methylglutaconic aciduria type 3	disease	BEFREE
C0575081	Gait abnormality	group	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0730309	Inherited optic neuropathy	disease	BEFREE
C0740279	Cerebellar atrophy	disease	HPO
C0751651	Mitochondrial Diseases	group	BEFREE;CLINVAR;GENOMICS_ENGLAND
C0848771	neurological disability	phenotype	BEFREE
C0858618	Dyschromatopsia	disease	BEFREE
C0917796	Optic Atrophy, Hereditary, Leber	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1112256	Sensorimotor neuropathy	disease	BEFREE
C1258666	Myxoid cyst	disease	BEFREE;LHGDN
C1263857	Peripheral axonal neuropathy	disease	BEFREE
C1384666	hearing impairment	phenotype	LHGDN
C1691779	Sensory hearing loss	disease	BEFREE
C1832466	CAPOS syndrome	disease	ORPHANET
C1837522	Impaired pain sensation	phenotype	HPO
C1839364	Progressive visual loss	phenotype	HPO
C1843156	Progressive sensorineural hearing impairment	disease	HPO
C1843367	Poor school performance	phenotype	HPO
C1843479	Neurogenic muscle atrophy, especially in the lower limbs	phenotype	HPO
C1843700	Increased variability in muscle fiber diameter	phenotype	HPO
C1847730	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)	phenotype	CTD_human
C1852267	OPTIC ATROPHY 1 AND DEAFNESS	disease	CLINVAR;CTD_human
C1852271	Auditory neuropathy	disease	BEFREE
C1853743	Muscular hypotonia of the trunk	phenotype	HPO
C1854301	Motor delay	phenotype	HPO
C1855773	Psychomotor retardation, profound	phenotype	HPO
C1856689	FRIEDREICH ATAXIA 1	disease	BEFREE
C1859520	Progressive spasticity	phenotype	HPO
C1859524	Adductor longus contractures	phenotype	HPO
C1866934	Reduced tendon reflexes	phenotype	HPO
C1955603	Deaf-Blind Disorders	group	BEFREE
C1970167	Blue/yellow color vision defect	phenotype	HPO
C1970168	Red/green color vision defect	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2732267	Auditory neuropathy spectrum disorder	disease	BEFREE
C3276549	OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	disease	BEFREE;UNIPROT
C3277697	Decreased visual acuity, progressive	phenotype	HPO
C3532239	Mitochondrial cardiomyopathy	disease	BEFREE
C3552853	Color vision defect, severe	phenotype	HPO
C3553450	Profound global developmental delay	disease	HPO
C3665346	Unspecified visual loss	phenotype	BEFREE
C3665347	Visual Impairment	phenotype	HPO
C3714756	Intellectual Disability	group	HPO
C3887709	Optic Neuropathy	disease	BEFREE
C4020873	Infratentorial atrophy	disease	HPO
C4020874	No development of motor milestones	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021085	Abnormality of brain morphology	phenotype	CLINVAR
C4025834	Abnormal amplitude of pattern reversal visual evoked potentials	phenotype	HPO
C4225163	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)	disease	CLINVAR;CTD_human;UNIPROT
C4229565	Loss in color vision	phenotype	HPO
C4275164	Autosomal dominant optic atrophy plus syndrome	disease	BEFREE
C4280624	Blind spot located at fixation point	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000287	magnesium ion binding	NAS
GO:0003924	GTPase activity	TAS
GO:0003924	GTPase activity	IDA
GO:0003924	GTPase activity	IBA
GO:0005515	protein binding	IPI
GO:0005525	GTP binding	IEA
GO:0008017	microtubule binding	IBA
GO:0019900	kinase binding	IEA
GO:0044877	protein-containing complex binding	IEA
GO:0070300	phosphatidic acid binding	IDA
GO:1901612	cardiolipin binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000002	mitochondrial genome maintenance	IMP
GO:0000266	mitochondrial fission	TAS
GO:0000266	mitochondrial fission	IBA
GO:0006915	apoptotic process	IEA
GO:0007005	mitochondrion organization	NAS
GO:0007005	mitochondrion organization	IMP
GO:0007007	inner mitochondrial membrane organization	IDA
GO:0007601	visual perception	IMP
GO:0008053	mitochondrial fusion	TAS
GO:0008053	mitochondrial fusion	IDA
GO:0008053	mitochondrial fusion	IMP
GO:0010636	positive regulation of mitochondrial fusion	IEA
GO:0014042	positive regulation of neuron maturation	IEA
GO:0014850	response to muscle activity	IEA
GO:0019896	axonal transport of mitochondrion	TAS
GO:0036444	calcium import into the mitochondrion	IEA
GO:0043066	negative regulation of apoptotic process	IDA
GO:0046039	GTP metabolic process	IDA
GO:0046628	positive regulation of insulin receptor signaling pathway	IEA
GO:0048285	organelle fission	IBA
GO:0048312	intracellular distribution of mitochondria	IEA
GO:0051259	protein complex oligomerization	IDA
GO:0051602	response to electrical stimulus	IEA
GO:0060041	retina development in camera-type eye	IEA
GO:0061003	positive regulation of dendritic spine morphogenesis	IEA
GO:0061025	membrane fusion	IBA
GO:0070584	mitochondrion morphogenesis	IEA
GO:0071333	cellular response to glucose stimulus	IEA
GO:0071456	cellular response to hypoxia	IEA
GO:0090102	cochlea development	IEA
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IMP
GO:0090398	cellular senescence	IDA
GO:0097749	membrane tubulation	IDA
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IGI
GO:1904643	response to curcumin	IEA
GO:1905232	cellular response to L-glutamate	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IBA
GO:0005739	mitochondrion	IDA
GO:0005739	mitochondrion	IBA
GO:0005741	mitochondrial outer membrane	IDA
GO:0005743	mitochondrial inner membrane	ISS
GO:0005743	mitochondrial inner membrane	NAS
GO:0005743	mitochondrial inner membrane	TAS
GO:0005758	mitochondrial intermembrane space	ISS
GO:0005758	mitochondrial intermembrane space	IDA
GO:0005829	cytosol	IDA
GO:0005886	plasma membrane	IBA
GO:0015630	microtubule cytoskeleton	IBA
GO:0016020	membrane	HDA
GO:0016020	membrane	IBA
GO:0016021	integral component of membrane	IEA
GO:0030061	mitochondrial crista	IDA
GO:0030425	dendrite	ISS
GO:0031314	extrinsic component of mitochondrial inner membrane	IEA
GO:0031410	cytoplasmic vesicle	IBA
GO:0031966	mitochondrial membrane	IBA
GO:1904115	axon cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109581	Apoptosis	TAS
R-HSA-169911	Regulation of Apoptosis	TAS
R-HSA-5357801	Programmed Cell Death	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C477819	15-deoxyprostaglandin J2	15-deoxyprostaglandin J2 inhibits the reaction [OPA1 protein binds to OPA1 protein]	20678484
C477819	15-deoxyprostaglandin J2	15-deoxyprostaglandin J2 results in increased expression of OPA1 protein alternative form	20678484
C477819	15-deoxyprostaglandin J2	15-deoxyprostaglandin J2 results in increased ubiquitination of OPA1 protein	20678484
C477819	15-deoxyprostaglandin J2	Acetylcysteine inhibits the reaction [15-deoxyprostaglandin J2 results in increased expression of OPA1 protein alternative form]	20678484
C477819	15-deoxyprostaglandin J2	Acetylcysteine inhibits the reaction [15-deoxyprostaglandin J2 results in increased ubiquitination of OPA1 protein]	20678484
C477819	15-deoxyprostaglandin J2	Cycloheximide inhibits the reaction [15-deoxyprostaglandin J2 results in increased expression of OPA1 protein alternative form]	20678484
C477819	15-deoxyprostaglandin J2	Dactinomycin inhibits the reaction [15-deoxyprostaglandin J2 results in increased expression of OPA1 protein alternative form]	20678484
D015056	1-Methyl-3-isobutylxanthine	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of OPA1 mRNA	29288687
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of OPA1 mRNA	31388691
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of OPA1 mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of OPA1 mRNA	18648102
C042375	4-diphenylacetoxy-1,1-dimethylpiperidinium	4-diphenylacetoxy-1,1-dimethylpiperidinium results in decreased expression of OPA1 protein	27491814
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of OPA1 mRNA	26238291
C496492	abrine	abrine results in decreased expression of OPA1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of OPA1 mRNA	21420995; 22230336; 25704631;
D000082	Acetaminophen	Acetaminophen affects the expression of OPA1 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in decreased expression of OPA1 protein	27792760
D000082	Acetaminophen	AICA ribonucleotide inhibits the reaction [Acetaminophen results in decreased expression of OPA1 protein]	27792760
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [15-deoxyprostaglandin J2 results in increased expression of OPA1 protein alternative form]	20678484
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [15-deoxyprostaglandin J2 results in increased ubiquitination of OPA1 protein]	20678484
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of OPA1 gene	27153756
C031143	AICA ribonucleotide	AICA ribonucleotide inhibits the reaction [Acetaminophen results in decreased expression of OPA1 protein]	27792760
C031143	AICA ribonucleotide	AICA ribonucleotide inhibits the reaction [Diclofenac results in decreased expression of OPA1 protein]	27792760
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of OPA1 mRNA	16483693
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of OPA1 mRNA	26680231
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of OPA1 mRNA	24449571
D000077237	Arsenic Trioxide	[Arsenic Trioxide co-treated with Copper Sulfate] results in decreased expression of OPA1 mRNA	30096535; 30543957;
D000077237	Arsenic Trioxide	[Arsenic Trioxide co-treated with Copper Sulfate] results in decreased expression of OPA1 protein	29778937; 30096535; 30543957;
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of OPA1 mRNA	29705899; 30096535; 30543957;
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of OPA1 protein	29705899; 29778937; 30516227; 30543957;
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of OPA1 protein	29867492
D000077237	Arsenic Trioxide	salvianolic acid A inhibits the reaction [Arsenic Trioxide results in increased expression of OPA1 protein]	29867492
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of OPA1 mRNA	20504355
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of OPA1 mRNA	21715664; 22228805;
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in increased expression of OPA1 protein alternative form	20678484
C006780	bisphenol A	bisphenol A affects the expression of OPA1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of OPA1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased methylation of OPA1 gene	28505145
C013418	bromfenacoum	bromfenacoum results in increased expression of OPA1 protein	28903499
C018475	butyraldehyde	butyraldehyde results in decreased expression of OPA1 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of OPA1 mRNA	26472689
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of OPA1 mRNA	20360939
D002258	Carbonyl Cyanide m-Chlorophenyl Hydrazone	Carbonyl Cyanide m-Chlorophenyl Hydrazone results in decreased expression of OPA1 protein alternative form	28940366
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of OPA1 mRNA	29156651
C029010	cinnamic acid	cinnamic acid inhibits the reaction [Glucose results in decreased expression of OPA1 protein]	30144576
D002945	Cisplatin	[N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride co-treated with Cisplatin] results in increased expression of OPA1 protein alternative form	31133874
D002945	Cisplatin	Cisplatin results in decreased expression of OPA1 protein	28698153
D002945	Cisplatin	Curcumin inhibits the reaction [Cisplatin results in decreased expression of OPA1 protein]	28698153
D019327	Copper Sulfate	[Arsenic Trioxide co-treated with Copper Sulfate] results in decreased expression of OPA1 mRNA	30096535; 30543957;
D019327	Copper Sulfate	[Arsenic Trioxide co-treated with Copper Sulfate] results in decreased expression of OPA1 protein	29778937; 30096535; 30543957;
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of OPA1 mRNA	30096535; 30543957;
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of OPA1 protein	29778937; 30543957;
D003474	Curcumin	Curcumin inhibits the reaction [Cisplatin results in decreased expression of OPA1 protein]	28698153
D003513	Cycloheximide	Cycloheximide inhibits the reaction [15-deoxyprostaglandin J2 results in increased expression of OPA1 protein alternative form]	20678484
D016572	Cyclosporine	Cyclosporine results in decreased expression of OPA1 protein	23347876
D016572	Cyclosporine	Vitamin E inhibits the reaction [Cyclosporine results in decreased expression of OPA1 protein]	23347876
D003609	Dactinomycin	Dactinomycin inhibits the reaction [15-deoxyprostaglandin J2 results in increased expression of OPA1 protein alternative form]	20678484
D003907	Dexamethasone	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of OPA1 mRNA	29288687
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of OPA1 mRNA	21266533
D004008	Diclofenac	Diclofenac results in decreased expression of OPA1 mRNA	26934552
D004008	Diclofenac	AICA ribonucleotide inhibits the reaction [Diclofenac results in decreased expression of OPA1 protein]	27792760
D004008	Diclofenac	Diclofenac results in decreased expression of OPA1 protein	27792760
D004026	Dieldrin	Dieldrin affects the expression of OPA1 mRNA	22546817
D004041	Dietary Fats	Dietary Fats results in increased expression of OPA1 mRNA	19030233
D004041	Dietary Fats	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of OPA1 mRNA]	19030233
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of OPA1 mRNA	20360939
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in increased expression of OPA1 mRNA	27638505
D004221	Disulfiram	Disulfiram results in decreased expression of OPA1 mRNA	20530235
C516138	dorsomorphin	dorsomorphin results in decreased expression of OPA1 protein	27491814
D004317	Doxorubicin	Doxorubicin results in decreased expression of OPA1 protein	26678157
C098320	efavirenz	efavirenz results in increased expression of OPA1 mRNA	28940366
D000431	Ethanol	Ethanol affects the splicing of OPA1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of OPA1 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of OPA1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OPA1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of OPA1 mRNA	23129252
C496966	Eudragit RSPO	Eudragit RSPO results in decreased expression of OPA1 mRNA	22119964
C496966	Eudragit RSPO	Eudragit RSPO results in decreased expression of OPA1 protein	22119964
D005419	Flavonoids	Flavonoids results in increased expression of OPA1 mRNA	18035473
D005557	Formaldehyde	Formaldehyde results in decreased expression of OPA1 mRNA	23649840
D005947	Glucose	cinnamic acid inhibits the reaction [Glucose results in decreased expression of OPA1 protein]	30144576
D005947	Glucose	Glucose results in decreased expression of OPA1 protein	27684054; 30144576;
D005947	Glucose	Metformin inhibits the reaction [Glucose results in decreased expression of OPA1 protein]	30144576
D005947	Glucose	[INS protein co-treated with Glucose] results in decreased expression of OPA1 mRNA	22634610
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of OPA1 mRNA	17183730
D006861	Hydrogen Peroxide	ARNTL protein affects the reaction [Polyphenols inhibits the reaction [Hydrogen Peroxide results in decreased expression of OPA1 mRNA]]	30316844
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of OPA1 mRNA	30316844
D006861	Hydrogen Peroxide	Polyphenols inhibits the reaction [Hydrogen Peroxide results in decreased expression of OPA1 mRNA]	30316844
D007545	Isoproterenol	Isoproterenol results in decreased expression of OPA1 protein	27491814
C016527	isoquercitrin	isoquercitrin inhibits the reaction [Oxidopamine results in decreased expression of OPA1 mRNA]	25129099
C544151	jinfukang	jinfukang results in decreased expression of OPA1 mRNA	27392435
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine] results in increased expression of OPA1 mRNA	18313992
D007980	Levodopa	Levodopa inhibits the reaction [Oxidopamine results in decreased expression of OPA1 mRNA]	25129099
C432503	licarin A	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of OPA1 mRNA	29288687
D008687	Metformin	Metformin inhibits the reaction [Glucose results in decreased expression of OPA1 protein]	30144576
D008694	Methamphetamine	Methamphetamine affects the expression of OPA1 mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in decreased expression of OPA1 mRNA	30467583
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of OPA1 mRNA	23649840
C000622638	MLN7243	MLN7243 results in increased sumoylation of OPA1 protein	31285264
D009534	Niclosamide	Niclosamide results in increased expression of OPA1 mRNA	31398420
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of OPA1 mRNA	20188158
C434926	N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride	[N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride co-treated with Cisplatin] results in increased expression of OPA1 protein alternative form	31133874
D019319	Okadaic Acid	Okadaic Acid results in increased expression of OPA1 protein	26732598
D016627	Oxidopamine	isoquercitrin inhibits the reaction [Oxidopamine results in decreased expression of OPA1 mRNA]	25129099
D016627	Oxidopamine	Levodopa inhibits the reaction [Oxidopamine results in decreased expression of OPA1 mRNA]	25129099
D016627	Oxidopamine	Oxidopamine results in decreased expression of OPA1 mRNA	25129099
D016627	Oxidopamine	Rutin inhibits the reaction [Oxidopamine results in decreased expression of OPA1 mRNA]	25129099
D010100	Oxygen	Oxygen deficiency results in decreased expression of OPA1 protein	27684054
D010100	Oxygen	Sevoflurane inhibits the reaction [Oxygen deficiency results in decreased expression of OPA1 protein]	27684054
D052638	Particulate Matter	Particulate Matter affects the expression of OPA1 mRNA	25560372
D052638	Particulate Matter	Particulate Matter affects the expression of OPA1 protein	25560372
D010433	Pentylenetetrazole	Pentylenetetrazole affects the expression of OPA1 mRNA	21503142
D010894	Piroxicam	Piroxicam results in decreased expression of OPA1 mRNA	21858171
D010936	Plant Extracts	Plant Extracts results in increased expression of OPA1 mRNA	23557933
D059808	Polyphenols	ARNTL protein affects the reaction [Polyphenols inhibits the reaction [Hydrogen Peroxide results in decreased expression of OPA1 mRNA]]	30316844
D059808	Polyphenols	Polyphenols inhibits the reaction [Hydrogen Peroxide results in decreased expression of OPA1 mRNA]	30316844
D000077185	Resveratrol	Resveratrol results in decreased expression of OPA1 protein	18089832
D000077185	Resveratrol	Resveratrol inhibits the reaction [Rotenone results in decreased expression of OPA1 mRNA]	26770656
D000077185	Resveratrol	Resveratrol inhibits the reaction [Rotenone results in decreased expression of OPA1 protein]	26770656
D000077185	Resveratrol	Resveratrol promotes the reaction [Rotenone results in decreased expression of OPA1 mRNA]	26770656
D000077285	Rimonabant	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of OPA1 mRNA]	19030233
D000077154	Rosiglitazone	Rosiglitazone affects the expression of OPA1 mRNA	22013433
D012402	Rotenone	Rotenone results in increased expression of OPA1 protein	21223980
D012402	Rotenone	Resveratrol inhibits the reaction [Rotenone results in decreased expression of OPA1 mRNA]	26770656
D012402	Rotenone	Resveratrol inhibits the reaction [Rotenone results in decreased expression of OPA1 protein]	26770656
D012402	Rotenone	Resveratrol promotes the reaction [Rotenone results in decreased expression of OPA1 mRNA]	26770656
D012402	Rotenone	Rotenone results in decreased expression of OPA1 mRNA	26770656
D012402	Rotenone	Rotenone results in decreased expression of OPA1 protein	26770656
D012402	Rotenone	Rotenone results in increased expression of OPA1 mRNA	19013527
D012431	Rutin	Rutin inhibits the reaction [Oxidopamine results in decreased expression of OPA1 mRNA]	25129099
C066201	salvianolic acid A	salvianolic acid A inhibits the reaction [Arsenic Trioxide results in increased expression of OPA1 protein]	29867492
D012643	Selenium	Selenium results in decreased expression of OPA1 mRNA	19244175
D000077149	Sevoflurane	Sevoflurane inhibits the reaction [Oxygen deficiency results in decreased expression of OPA1 protein]	27684054
C017947	sodium arsenite	sodium arsenite results in increased expression of OPA1 mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in decreased expression of OPA1 protein	29459688
C025451	sodium bisulfide	sodium bisulfide affects the expression of OPA1 protein	28503736
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of OPA1 protein	28918527
D013629	Tamoxifen	Tamoxifen affects the expression of OPA1 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of OPA1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OPA1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of OPA1 mRNA	15328365
D019284	Thapsigargin	Thapsigargin results in increased expression of OPA1 mRNA	28940366
D013893	Thiram	Thiram results in decreased expression of OPA1 mRNA	20530235
C016151	tinuvin	tinuvin analog results in increased expression of OPA1 mRNA	30315675
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of OPA1 protein	30579903
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of OPA1 mRNA	28065790
C025541	tri-o-cresyl phosphate	tri-o-cresyl phosphate affects the localization of and results in decreased expression of OPA1 protein	31100276
D014414	Tungsten	Tungsten results in decreased expression of OPA1 mRNA	30912803
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of OPA1 mRNA	17183730
D014635	Valproic Acid	Valproic Acid affects the expression of OPA1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of OPA1 mRNA	23179753
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of OPA1 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of OPA1 mRNA	19015723
D014810	Vitamin E	Vitamin E inhibits the reaction [Cyclosporine results in decreased expression of OPA1 protein]	23347876
D015215	Zidovudine	[DTYMK protein affects the susceptibility to Zidovudine] which affects the expression of OPA1 mRNA	28683400
D015215	Zidovudine	[DTYMK protein affects the susceptibility to Zidovudine] which affects the expression of OPA1 protein	28683400
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine] results in increased expression of OPA1 mRNA	18313992

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0053	Apoptosis
KW-0122	Cardiomyopathy
KW-0175	Coiled coil
KW-0209	Deafness
KW-0225	Disease mutation
KW-0342	GTP-binding
KW-0378	Hydrolase
KW-0446	Lipid-binding
KW-0472	Membrane
KW-0496	Mitochondrion
KW-0999	Mitochondrion inner membrane
KW-0523	Neurodegeneration
KW-0547	Nucleotide-binding
KW-0621	Polymorphism
KW-1274	Primary mitochondrial disease
KW-1185	Reference proteome
KW-0716	Sensory transduction
KW-0809	Transit peptide
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0844	Vision

Interpro

InterPro ID	InterPro Term
IPR001401	Dynamin_GTPase
IPR022812	Dynamin_SF
IPR030381	G_DYNAMIN_dom
IPR033047	Opa1
IPR027417	P-loop_NTPase

PROSITE

PROSITE ID	PROSITE Term
PS51718	G_DYNAMIN_2

Pfam

Pfam ID	Pfam Term
PF00350	Dynamin_N

Gene: OPA1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction