CleftGeneDB-Search

Gene: PMPCA

Basic information

Tag	Content
Uniprot ID	Q10713; B4DKL3; E7ET61; Q16639; Q5SXM9; Q8N513;
Entrez ID	23203
Genbank protein ID	AAI11400.1; AAI32725.1; EAW88232.1; AAH33103.2; BAA09472.2; AAH22949.1; BAG59225.1; AAI36600.1; BAA04643.1;
Genbank nucleotide ID	NM_001282944.1; NM_015160.2; NM_001282946.1;
Ensembl protein ID	ENSP00000360782; ENSP00000416702;
Ensembl nucleotide ID	ENSG00000165688
Gene name	Mitochondrial-processing peptidase subunit alpha
Gene symbol	PMPCA
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
Sequence	MAAVVLAATR LLRGSGSWGC SRLRFGPPAY RRFSSGGAYP NIPLSSPLPG VPKPVFATVD 60 GQEKFETKVT TLDNGLRVAS QNKFGQFCTV GILINSGSRY EAKYLSGIAH FLEKLAFSST 120 ARFDSKDEIL LTLEKHGGIC DCQTSRDTTM YAVSADSKGL DTVVALLADV VLQPRLTDEE 180 VEMTRMAVQF ELEDLNLRPD PEPLLTEMIH EAAYRENTVG LHRFCPTENV AKINREVLHS 240 YLRNYYTPDR MVLAGVGVEH EHLVDCARKY LLGVQPAWGS AEAVDIDRSV AQYTGGIAKL 300 ERDMSNVSLG PTPIPELTHI MVGLESCSFL EEDFIPFAVL NMMMGGGGSF SAGGPGKGMF 360 SRLYLNVLNR HHWMYNATSY HHSYEDTGLL CIHASADPRQ VREMVEIITK EFILMGGTVD 420 TVELERAKTQ LTSMLMMNLE SRPVIFEDVG RQVLATRSRK LPHELCTLIR NVKPEDVKRV 480 ASKMLRGKPA VAALGDLTDL PTYEHIQTAL SSKDGRLPRT YRLFR 525

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	PMPCA	767847	Q0P5M8		Bos taurus	Prediction	More>>
1:1 ortholog	PMPCA	480677	F1PF09		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PMPCA	102171796	A0A452EEL9		Capra hircus	Prediction	More>>
1:1 ortholog	PMPCA	23203	Q10713		Homo sapiens	Prediction	More>>
1:1 ortholog	Pmpca	66865	Q9DC61	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PMPCA		H2QY64		Pan troglodytes	Prediction	More>>
1:1 ortholog	PMPCA		A0A5G2Q8L1		Sus scrofa	Prediction	More>>
1:1 ortholog	Pmpca	296588	Q68FX8		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pmpca		A0A0R4IFK9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs368853345	p.Ala2Gly	missense variant	-	NC_000009.12:g.136410673C>G	ESP,ExAC,TOPMed,gnomAD
rs368853345	p.Ala2Val	missense variant	-	NC_000009.12:g.136410673C>T	ESP,ExAC,TOPMed,gnomAD
rs1045355167	p.Ala2Ser	missense variant	-	NC_000009.12:g.136410672G>T	TOPMed
rs76293177	p.Val4Glu	missense variant	-	NC_000009.12:g.136410679T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs76293177	p.Val4Gly	missense variant	-	NC_000009.12:g.136410679T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs760975622	p.Val4Met	missense variant	-	NC_000009.12:g.136410678G>A	ExAC,gnomAD
rs561383356	p.Val5Glu	missense variant	-	NC_000009.12:g.136410682T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs561383356	p.Val5Ala	missense variant	-	NC_000009.12:g.136410682T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751427408	p.Leu6Val	missense variant	-	NC_000009.12:g.136410684C>G	ExAC,TOPMed,gnomAD
rs149055087	p.Ala7Gly	missense variant	-	NC_000009.12:g.136410688C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149055087	p.Ala7Glu	missense variant	-	NC_000009.12:g.136410688C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149055087	p.Ala7Val	missense variant	-	NC_000009.12:g.136410688C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748858881	p.Ala8Gly	missense variant	-	NC_000009.12:g.136410691C>G	ExAC,TOPMed,gnomAD
rs748858881	p.Ala8Val	missense variant	-	NC_000009.12:g.136410691C>T	ExAC,TOPMed,gnomAD
rs779615213	p.Ala8Thr	missense variant	-	NC_000009.12:g.136410690G>A	ExAC,TOPMed,gnomAD
rs571540936	p.Thr9Lys	missense variant	-	NC_000009.12:g.136410694C>A	1000Genomes,ExAC,gnomAD
rs571540936	p.Thr9Met	missense variant	-	NC_000009.12:g.136410694C>T	1000Genomes,ExAC,gnomAD
rs770263035	p.Arg10Trp	missense variant	-	NC_000009.12:g.136410696C>T	ExAC,TOPMed,gnomAD
rs1007898550	p.Arg10Pro	missense variant	-	NC_000009.12:g.136410697G>C	TOPMed,gnomAD
rs771285196	p.Leu12Pro	missense variant	-	NC_000009.12:g.136410703T>C	ExAC,gnomAD
rs776679891	p.Arg13Trp	missense variant	-	NC_000009.12:g.136410705C>T	ExAC,TOPMed
rs759708108	p.Arg13Gln	missense variant	-	NC_000009.12:g.136410706G>A	ExAC,gnomAD
rs759708108	p.Arg13Pro	missense variant	-	NC_000009.12:g.136410706G>C	ExAC,gnomAD
rs761722598	p.Gly14Val	missense variant	-	NC_000009.12:g.136410709G>T	ExAC,gnomAD
rs767384133	p.Gly16Ala	missense variant	-	NC_000009.12:g.136410715G>C	ExAC,gnomAD
rs767384133	p.Gly16Val	missense variant	-	NC_000009.12:g.136410715G>T	ExAC,gnomAD
rs750223224	p.Ser17Ala	missense variant	-	NC_000009.12:g.136410717T>G	ExAC,TOPMed,gnomAD
rs142682572	p.Trp18Arg	missense variant	-	NC_000009.12:g.136410720T>C	ESP,ExAC,TOPMed,gnomAD
rs753411469	p.Ser21Leu	missense variant	-	NC_000009.12:g.136410730C>T	ExAC,TOPMed,gnomAD
RCV000416418	p.Arg22Trp	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136410732C>T	ClinVar
rs374412780	p.Arg22Leu	missense variant	-	NC_000009.12:g.136410733G>T	ESP,ExAC,TOPMed,gnomAD
rs374412780	p.Arg22Gln	missense variant	-	NC_000009.12:g.136410733G>A	ESP,ExAC,TOPMed,gnomAD
rs1057519454	p.Arg22Trp	missense variant	-	NC_000009.12:g.136410732C>T	TOPMed
rs996347606	p.Leu23Val	missense variant	-	NC_000009.12:g.136410735C>G	TOPMed
rs778283114	p.Arg24Trp	missense variant	-	NC_000009.12:g.136410738A>T	ExAC,gnomAD
rs753594951	p.Phe25Val	missense variant	-	NC_000009.12:g.136411998T>G	ExAC,gnomAD
rs754573487	p.Pro27Ser	missense variant	-	NC_000009.12:g.136412004C>T	ExAC,gnomAD
rs754573487	p.Pro27Thr	missense variant	-	NC_000009.12:g.136412004C>A	ExAC,gnomAD
rs185273868	p.Ala29Val	missense variant	-	NC_000009.12:g.136412011C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs904950671	p.Ala29Thr	missense variant	-	NC_000009.12:g.136412010G>A	TOPMed,gnomAD
rs765195885	p.Arg32Trp	missense variant	-	NC_000009.12:g.136412019C>T	ExAC,TOPMed,gnomAD
rs1193071545	p.Arg32Gln	missense variant	-	NC_000009.12:g.136412020G>A	TOPMed
rs148471154	p.Ser35Arg	missense variant	-	NC_000009.12:g.136412030T>A	ESP,ExAC,gnomAD
rs769911539	p.Gly36Asp	missense variant	-	NC_000009.12:g.136412032G>A	ExAC,gnomAD
rs749391043	p.Gly37Ala	missense variant	-	NC_000009.12:g.136412035G>C	ExAC,gnomAD
rs773174464	p.Ala38Asp	missense variant	-	NC_000009.12:g.136412038C>A	ExAC,gnomAD
rs200216451	p.Ala38Ser	missense variant	-	NC_000009.12:g.136412037G>T	1000Genomes,ExAC,gnomAD
rs773174464	p.Ala38Gly	missense variant	-	NC_000009.12:g.136412038C>G	ExAC,gnomAD
rs200216451	p.Ala38Pro	missense variant	-	NC_000009.12:g.136412037G>C	1000Genomes,ExAC,gnomAD
rs201851161	p.Tyr39Cys	missense variant	-	NC_000009.12:g.136412041A>G	1000Genomes,ExAC,gnomAD
rs1483364409	p.Tyr39His	missense variant	-	NC_000009.12:g.136412040T>C	gnomAD
rs1459460411	p.Pro40Ser	missense variant	-	NC_000009.12:g.136412043C>T	TOPMed
rs776304951	p.Ile42Asn	missense variant	-	NC_000009.12:g.136412050T>A	ExAC,TOPMed,gnomAD
rs764833191	p.Leu44Val	missense variant	-	NC_000009.12:g.136412055C>G	ExAC,TOPMed,gnomAD
rs764833191	p.Leu44Phe	missense variant	-	NC_000009.12:g.136412055C>T	ExAC,TOPMed,gnomAD
rs545672039	p.Leu44Pro	missense variant	-	NC_000009.12:g.136412056T>C	ExAC,gnomAD
rs541694322	p.Ser46Ala	missense variant	-	NC_000009.12:g.136412061T>G	TOPMed,gnomAD
rs1450652782	p.Pro47Leu	missense variant	-	NC_000009.12:g.136412065C>T	gnomAD
rs763689660	p.Pro47Ser	missense variant	-	NC_000009.12:g.136412064C>T	ExAC,gnomAD
rs374916460	p.Pro49Leu	missense variant	-	NC_000009.12:g.136412071C>T	ESP,ExAC,TOPMed,gnomAD
rs1290350795	p.Val51Ile	missense variant	-	NC_000009.12:g.136412076G>A	gnomAD
rs750783370	p.Pro52Leu	missense variant	-	NC_000009.12:g.136412080C>T	ExAC,gnomAD
rs1217460585	p.Pro52Ser	missense variant	-	NC_000009.12:g.136412079C>T	gnomAD
rs113080564	p.Val55Ala	missense variant	-	NC_000009.12:g.136412089T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1182230846	p.Phe56Val	missense variant	-	NC_000009.12:g.136412091T>G	gnomAD
rs1399138004	p.Phe56Tyr	missense variant	-	NC_000009.12:g.136412092T>A	TOPMed
rs778953110	p.Ala57Val	missense variant	-	NC_000009.12:g.136412095C>T	ExAC,gnomAD
rs1172447345	p.Thr58Lys	missense variant	-	NC_000009.12:g.136412098C>A	TOPMed,gnomAD
rs367845329	p.Thr58Ala	missense variant	-	NC_000009.12:g.136412097A>G	ESP,TOPMed,gnomAD
rs1172447345	p.Thr58Ile	missense variant	-	NC_000009.12:g.136412098C>T	TOPMed,gnomAD
rs1426493628	p.Gly61Glu	missense variant	-	NC_000009.12:g.136412107G>A	gnomAD
rs770779234	p.Glu63Gly	missense variant	-	NC_000009.12:g.136412113A>G	ExAC,gnomAD
COSM3905672	p.Thr67Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412124A>G	NCI-TCGA Cosmic
rs1430712591	p.Thr67Asn	missense variant	-	NC_000009.12:g.136412125C>A	gnomAD
rs769611692	p.Leu72Ter	stop gained	-	NC_000009.12:g.136412140T>A	ExAC,gnomAD
rs769611692	p.Leu72Ser	missense variant	-	NC_000009.12:g.136412140T>C	ExAC,gnomAD
rs1363458152	p.Asp73Asn	missense variant	-	NC_000009.12:g.136412142G>A	gnomAD
rs143416740	p.Arg77Cys	missense variant	-	NC_000009.12:g.136412154C>T	ESP,ExAC,TOPMed,gnomAD
rs761345159	p.Val78Met	missense variant	-	NC_000009.12:g.136412157G>A	ExAC,TOPMed,gnomAD
rs767929938	p.Ala79Thr	missense variant	-	NC_000009.12:g.136412160G>A	ExAC,gnomAD
rs987997261	p.Gln81Arg	missense variant	-	NC_000009.12:g.136412167A>G	TOPMed
COSM3779814	p.Gly85Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412179G>C	NCI-TCGA Cosmic
rs141305380	p.Gln86His	missense variant	-	NC_000009.12:g.136412183G>C	ESP,ExAC,TOPMed,gnomAD
rs143542738	p.Thr89Ile	missense variant	-	NC_000009.12:g.136412191C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780393219	p.Thr89Ala	missense variant	-	NC_000009.12:g.136412190A>G	ExAC,gnomAD
rs755207706	p.Val90Leu	missense variant	-	NC_000009.12:g.136412193G>T	ExAC,gnomAD
rs755207706	p.Val90Ile	missense variant	-	NC_000009.12:g.136412193G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile94Thr	missense variant	-	NC_000009.12:g.136412496T>C	NCI-TCGA
rs559122481	p.Asn95Ser	missense variant	-	NC_000009.12:g.136412499A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000207255	p.Ser96Leu	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136412502C>T	ClinVar
rs869025292	p.Ser96Leu	missense variant	-	NC_000009.12:g.136412502C>T	-
rs780097115	p.Ser98Ter	stop gained	-	NC_000009.12:g.136412508C>A	ExAC,gnomAD
rs1438925486	p.Ser98Ala	missense variant	-	NC_000009.12:g.136412507T>G	TOPMed
rs780097115	p.Ser98Leu	missense variant	-	NC_000009.12:g.136412508C>T	ExAC,gnomAD
COSM297611	p.Glu101Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412518A>C	NCI-TCGA Cosmic
rs577436658	p.Ala102Val	missense variant	-	NC_000009.12:g.136412520C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs577436658	p.Ala102Gly	missense variant	-	NC_000009.12:g.136412520C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1284218657	p.Tyr104His	missense variant	-	NC_000009.12:g.136412525T>C	TOPMed
rs145709638	p.Leu105Phe	missense variant	-	NC_000009.12:g.136412528C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369266401	p.Leu105Arg	missense variant	-	NC_000009.12:g.136412529T>G	ESP,ExAC,TOPMed,gnomAD
rs1484494218	p.Ser106Thr	missense variant	-	NC_000009.12:g.136412532G>C	gnomAD
rs766903950	p.Ser106Arg	missense variant	-	NC_000009.12:g.136412531A>C	ExAC,TOPMed,gnomAD
rs889270643	p.Ile108Leu	missense variant	-	NC_000009.12:g.136412537A>C	TOPMed,gnomAD
rs759946294	p.Glu113Gln	missense variant	-	NC_000009.12:g.136412552G>C	ExAC,gnomAD
rs765559277	p.Lys114Gln	missense variant	-	NC_000009.12:g.136412555A>C	ExAC,TOPMed,gnomAD
rs752932999	p.Ser118Leu	missense variant	-	NC_000009.12:g.136412568C>T	ExAC,gnomAD
rs778649107	p.Ser119Phe	missense variant	-	NC_000009.12:g.136412811C>T	ExAC,TOPMed,gnomAD
rs778649107	p.Ser119Tyr	missense variant	-	NC_000009.12:g.136412811C>A	ExAC,TOPMed,gnomAD
rs752569851	p.Ala121Ser	missense variant	-	NC_000009.12:g.136412816G>T	ExAC,gnomAD
rs752569851	p.Ala121Pro	missense variant	-	NC_000009.12:g.136412816G>C	ExAC,gnomAD
COSM1106782	p.Ala121Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412817C>T	NCI-TCGA Cosmic
rs187951510	p.Arg122Ter	stop gained	-	NC_000009.12:g.136412819C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777534357	p.Arg122Leu	missense variant	-	NC_000009.12:g.136412820G>T	ExAC,TOPMed,gnomAD
rs777534357	p.Arg122Gln	missense variant	-	NC_000009.12:g.136412820G>A	ExAC,TOPMed,gnomAD
rs1179750949	p.Phe123Leu	missense variant	-	NC_000009.12:g.136412824T>G	TOPMed
rs961600848	p.Asp124His	missense variant	-	NC_000009.12:g.136412825G>C	gnomAD
rs961600848	p.Asp124Tyr	missense variant	-	NC_000009.12:g.136412825G>T	gnomAD
rs770498809	p.Ser125Thr	missense variant	-	NC_000009.12:g.136412829G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp127Asn	missense variant	-	NC_000009.12:g.136412834G>A	NCI-TCGA
rs1291324687	p.Glu128Lys	missense variant	-	NC_000009.12:g.136412837G>A	gnomAD
NCI-TCGA novel	p.Leu131Phe	missense variant	-	NC_000009.12:g.136412846C>T	NCI-TCGA
rs377406908	p.Thr132Met	missense variant	-	NC_000009.12:g.136412850C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763420915	p.His136Tyr	missense variant	-	NC_000009.12:g.136412861C>T	ExAC,gnomAD
rs762112786	p.Gly138Asp	missense variant	-	NC_000009.12:g.136412868G>A	ExAC,gnomAD
rs1280678675	p.Ile139Val	missense variant	-	NC_000009.12:g.136412870A>G	TOPMed
NCI-TCGA novel	p.Asp141Gly	missense variant	-	NC_000009.12:g.136412877A>G	NCI-TCGA
rs1264999669	p.Thr144Ala	missense variant	-	NC_000009.12:g.136412885A>G	TOPMed,gnomAD
rs1208381721	p.Asp147Asn	missense variant	-	NC_000009.12:g.136414554G>A	TOPMed
rs1446299060	p.Asp147Gly	missense variant	-	NC_000009.12:g.136414555A>G	gnomAD
rs756993488	p.Asp147Glu	missense variant	-	NC_000009.12:g.136414556C>G	ExAC,gnomAD
rs1380205222	p.Thr148Ala	missense variant	-	NC_000009.12:g.136414557A>G	gnomAD
rs576680927	p.Thr148Ile	missense variant	-	NC_000009.12:g.136414558C>T	1000Genomes,ExAC,gnomAD
COSM4716103	p.Thr149Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136414560A>G	NCI-TCGA Cosmic
rs760182936	p.Met150Thr	missense variant	-	NC_000009.12:g.136414564T>C	ExAC,gnomAD
rs750044634	p.Met150Val	missense variant	-	NC_000009.12:g.136414563A>G	ExAC,gnomAD
rs779415282	p.Tyr151Phe	missense variant	-	NC_000009.12:g.136414567A>T	ExAC,gnomAD
rs755444850	p.Ala152Ser	missense variant	-	NC_000009.12:g.136414569G>T	ExAC,gnomAD
NCI-TCGA novel	p.Val153Glu	missense variant	-	NC_000009.12:g.136414573T>A	NCI-TCGA
rs1207799197	p.Val153Met	missense variant	-	NC_000009.12:g.136414572G>A	gnomAD
rs779522057	p.Ser154Phe	missense variant	-	NC_000009.12:g.136414576C>T	ExAC,gnomAD
rs148940590	p.Ala155Val	missense variant	-	NC_000009.12:g.136414579C>T	ESP,ExAC,TOPMed,gnomAD
COSM4855541	p.Asp156His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136414581G>C	NCI-TCGA Cosmic
rs543713243	p.Asp156Asn	missense variant	-	NC_000009.12:g.136414581G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773610585	p.Ser157Thr	missense variant	-	NC_000009.12:g.136414585G>C	ExAC
rs143813417	p.Gly159Val	missense variant	-	NC_000009.12:g.136414591G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu160Val	missense variant	-	NC_000009.12:g.136414593T>G	NCI-TCGA
rs754438094	p.Thr162Ala	missense variant	-	NC_000009.12:g.136414599A>G	ExAC,TOPMed,gnomAD
rs192764146	p.Thr162Met	missense variant	-	NC_000009.12:g.136414600C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs192764146	p.Thr162Lys	missense variant	-	NC_000009.12:g.136414600C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774247233	p.Val163Met	missense variant	-	NC_000009.12:g.136414602G>A	ExAC,gnomAD
rs1436877996	p.Val164Ala	missense variant	-	NC_000009.12:g.136414606T>C	gnomAD
rs1311448987	p.Ala165Thr	missense variant	-	NC_000009.12:g.136414608G>A	TOPMed
rs964477963	p.Ala165Val	missense variant	-	NC_000009.12:g.136414609C>T	gnomAD
rs372911421	p.Ala168Thr	missense variant	-	NC_000009.12:g.136414617G>A	ESP,ExAC,gnomAD
rs1280013483	p.Val170Gly	missense variant	-	NC_000009.12:g.136414624T>G	gnomAD
NCI-TCGA novel	p.Val170AspPheSerTerUnk	stop gained	-	NC_000009.12:g.136414623_136414624insACTAATTCTACTTCTTTTCCTGTTTGCATGACTT	NCI-TCGA
rs1414622818	p.Val171Phe	missense variant	-	NC_000009.12:g.136414626G>T	TOPMed
COSM1461074	p.Val171Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136414627T>C	NCI-TCGA Cosmic
rs200013425	p.Pro174Leu	missense variant	-	NC_000009.12:g.136414636C>T	1000Genomes,ExAC,gnomAD
rs368447845	p.Pro174Ser	missense variant	-	NC_000009.12:g.136414635C>T	ESP,ExAC,TOPMed,gnomAD
rs368447845	p.Pro174Ala	missense variant	-	NC_000009.12:g.136414635C>G	ESP,ExAC,TOPMed,gnomAD
rs142513180	p.Arg175Gln	missense variant	-	NC_000009.12:g.136414639G>A	ESP,ExAC,TOPMed,gnomAD
rs142513180	p.Arg175Pro	missense variant	-	NC_000009.12:g.136414639G>C	ESP,ExAC,TOPMed,gnomAD
rs375535519	p.Arg175Trp	missense variant	-	NC_000009.12:g.136414638C>T	ESP,ExAC,TOPMed,gnomAD
rs146817048	p.Asp178Asn	missense variant	-	NC_000009.12:g.136414647G>A	ESP,ExAC,gnomAD
rs1227261787	p.Asp178Ala	missense variant	-	NC_000009.12:g.136416291A>C	gnomAD
rs769918024	p.Asp178Glu	missense variant	-	NC_000009.12:g.136416292T>G	ExAC,TOPMed
rs146817048	p.Asp178His	missense variant	-	NC_000009.12:g.136414647G>C	ESP,ExAC,gnomAD
rs146817048	p.Asp178Tyr	missense variant	-	NC_000009.12:g.136414647G>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu180Gln	missense variant	-	NC_000009.12:g.136416296G>C	NCI-TCGA
rs1337651265	p.Val181Ile	missense variant	-	NC_000009.12:g.136416299G>A	gnomAD
RCV000520363	p.Glu182Lys	missense variant	-	NC_000009.12:g.136416302G>A	ClinVar
COSM4832832	p.Glu182Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136416304G>C	NCI-TCGA Cosmic
rs868320996	p.Glu182Lys	missense variant	-	NC_000009.12:g.136416302G>A	gnomAD
NCI-TCGA novel	p.Met183Ile	missense variant	-	NC_000009.12:g.136416307G>A	NCI-TCGA
rs772027681	p.Thr184Met	missense variant	-	NC_000009.12:g.136416309C>T	ExAC,TOPMed,gnomAD
RCV000416433	p.Arg185Gln	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136416312G>A	ClinVar
rs573267388	p.Arg185Gln	missense variant	-	NC_000009.12:g.136416312G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1001253464	p.Arg185Trp	missense variant	-	NC_000009.12:g.136416311C>T	TOPMed,gnomAD
rs573267388	p.Arg185Leu	missense variant	-	NC_000009.12:g.136416312G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1472486098	p.Ala187Val	missense variant	-	NC_000009.12:g.136416318C>T	TOPMed,gnomAD
rs1235969290	p.Ala187Thr	missense variant	-	NC_000009.12:g.136416317G>A	gnomAD
NCI-TCGA novel	p.Val188Leu	missense variant	-	NC_000009.12:g.136416320G>C	NCI-TCGA
NCI-TCGA novel	p.Gln189Arg	missense variant	-	NC_000009.12:g.136416324A>G	NCI-TCGA
rs776215231	p.Glu191Gly	missense variant	-	NC_000009.12:g.136416330A>G	ExAC,gnomAD
COSM3655731	p.Glu191Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136416329G>A	NCI-TCGA Cosmic
rs759251899	p.Arg198Trp	missense variant	-	NC_000009.12:g.136416350C>T	ExAC,gnomAD
rs138828077	p.Arg198Gln	missense variant	-	NC_000009.12:g.136416351G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3905674	p.Pro199Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136416353C>T	NCI-TCGA Cosmic
rs1413593643	p.Pro199Arg	missense variant	-	NC_000009.12:g.136416354C>G	gnomAD
rs202131156	p.Glu202Gly	missense variant	-	NC_000009.12:g.136416363A>G	1000Genomes
rs752263915	p.Pro203Ser	missense variant	-	NC_000009.12:g.136416365C>T	ExAC,TOPMed,gnomAD
rs764553676	p.Leu205Val	missense variant	-	NC_000009.12:g.136416371C>G	ExAC,gnomAD
rs1268069725	p.Glu207Lys	missense variant	-	NC_000009.12:g.136416377G>A	gnomAD
rs1351789649	p.Met208Val	missense variant	-	NC_000009.12:g.136416380A>G	gnomAD
rs757626111	p.Met208Lys	missense variant	-	NC_000009.12:g.136416381T>A	ExAC,gnomAD
rs1276731683	p.Ile209Thr	missense variant	-	NC_000009.12:g.136416384T>C	gnomAD
rs1276731683	p.Ile209Asn	missense variant	-	NC_000009.12:g.136416384T>A	gnomAD
rs201344036	p.Ala212Val	missense variant	-	NC_000009.12:g.136416952C>T	ESP,ExAC,TOPMed,gnomAD
rs747734212	p.Ala213Ser	missense variant	-	NC_000009.12:g.136416954G>T	ExAC
rs771549019	p.Tyr214Ter	stop gained	-	NC_000009.12:g.136416959C>G	ExAC,gnomAD
rs1233751945	p.Arg215Gly	missense variant	-	NC_000009.12:g.136416960A>G	TOPMed,gnomAD
rs1274988424	p.Thr218Ser	missense variant	-	NC_000009.12:g.136416969A>T	gnomAD
rs1274988424	p.Thr218Pro	missense variant	-	NC_000009.12:g.136416969A>C	gnomAD
rs773765494	p.Thr218Ile	missense variant	-	NC_000009.12:g.136416970C>T	ExAC,TOPMed,gnomAD
rs1214845306	p.Val219Phe	missense variant	-	NC_000009.12:g.136416972G>T	gnomAD
rs761164804	p.His222Arg	missense variant	-	NC_000009.12:g.136416982A>G	ExAC,gnomAD
rs776990571	p.Arg223His	missense variant	-	NC_000009.12:g.136416985G>A	ExAC,TOPMed,gnomAD
rs771359205	p.Arg223Cys	missense variant	-	NC_000009.12:g.136416984C>T	ExAC,gnomAD
rs759767573	p.Pro226Leu	missense variant	-	NC_000009.12:g.136416994C>T	ExAC,gnomAD
rs765523253	p.Asn229Ser	missense variant	-	NC_000009.12:g.136417003A>G	ExAC,gnomAD
rs763155407	p.Val230Ile	missense variant	-	NC_000009.12:g.136417005G>A	ExAC,gnomAD
rs764268524	p.Ala231Thr	missense variant	-	NC_000009.12:g.136417008G>A	ExAC,gnomAD
rs370137483	p.Ala231Gly	missense variant	-	NC_000009.12:g.136417009C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys232Asn	missense variant	-	NC_000009.12:g.136417013G>T	NCI-TCGA
rs756136045	p.Ile233Val	missense variant	-	NC_000009.12:g.136417014A>G	ExAC,TOPMed,gnomAD
rs1340126724	p.Asn234Asp	missense variant	-	NC_000009.12:g.136417017A>G	TOPMed
rs780093137	p.Asn234Ser	missense variant	-	NC_000009.12:g.136417018A>G	ExAC,TOPMed,gnomAD
rs754699927	p.Arg235Gly	missense variant	-	NC_000009.12:g.136417020C>G	ExAC,TOPMed,gnomAD
rs539008499	p.Arg235Gln	missense variant	-	NC_000009.12:g.136417021G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754699927	p.Arg235Ter	stop gained	-	NC_000009.12:g.136417020C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu236Asp	missense variant	-	NC_000009.12:g.136417025G>T	NCI-TCGA
rs1279192263	p.Leu238Val	missense variant	-	NC_000009.12:g.136417029C>G	gnomAD
rs1407300614	p.His239Arg	missense variant	-	NC_000009.12:g.136417033A>G	TOPMed
rs777268401	p.Ser240Tyr	missense variant	-	NC_000009.12:g.136417036C>A	ExAC,TOPMed,gnomAD
rs746463496	p.Tyr241Ser	missense variant	-	NC_000009.12:g.136417039A>C	ExAC,gnomAD
rs746463496	p.Tyr241Cys	missense variant	-	NC_000009.12:g.136417039A>G	ExAC,gnomAD
rs767886920	p.Leu242Pro	missense variant	-	NC_000009.12:g.136417042T>C	ExAC,gnomAD
rs150706625	p.Asn244Ser	missense variant	-	NC_000009.12:g.136417048A>G	ESP,ExAC,TOPMed,gnomAD
rs763276194	p.Tyr245Cys	missense variant	-	NC_000009.12:g.136417051A>G	ExAC,gnomAD
rs752465318	p.Tyr246Ter	stop gained	-	NC_000009.12:g.136417054dup	ExAC,TOPMed,gnomAD
rs764356617	p.Thr247Ala	missense variant	-	NC_000009.12:g.136417056A>G	ExAC,gnomAD
rs751714654	p.Pro248Arg	missense variant	-	NC_000009.12:g.136417060C>G	ExAC,TOPMed,gnomAD
rs3812582	p.Asp249Asn	missense variant	-	NC_000009.12:g.136417062G>A	ExAC,TOPMed,gnomAD
rs754860344	p.Arg250His	missense variant	-	NC_000009.12:g.136417066G>A	ExAC,TOPMed,gnomAD
rs1231149205	p.Arg250Cys	missense variant	-	NC_000009.12:g.136417065C>T	TOPMed
rs761195169	p.Val252Met	missense variant	-	NC_000009.12:g.136417071G>A	gnomAD
rs752469291	p.Gly255Ser	missense variant	-	NC_000009.12:g.136417080G>A	ExAC,gnomAD
RCV000207212	p.Val256Met	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136417083G>A	ClinVar
rs746549806	p.Val256Met	missense variant	-	NC_000009.12:g.136417083G>A	ExAC,gnomAD
rs746549806	p.Val256Met	missense variant	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2)	NC_000009.12:g.136417083G>A	UniProt,dbSNP
VAR_076238	p.Val256Met	missense variant	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2)	NC_000009.12:g.136417083G>A	UniProt
rs770272761	p.Val258Leu	missense variant	-	NC_000009.12:g.136417089G>T	ExAC,TOPMed,gnomAD
rs770272761	p.Val258Met	missense variant	-	NC_000009.12:g.136417089G>A	ExAC,TOPMed,gnomAD
rs749622972	p.Val258Ala	missense variant	-	NC_000009.12:g.136417090T>C	ExAC,gnomAD
rs1225789144	p.Glu259Gly	missense variant	-	NC_000009.12:g.136417093A>G	TOPMed
NCI-TCGA novel	p.Glu259Lys	missense variant	-	NC_000009.12:g.136417092G>A	NCI-TCGA
rs200586100	p.Glu261Lys	missense variant	-	NC_000009.12:g.136417098G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767481786	p.His262Leu	missense variant	-	NC_000009.12:g.136417102A>T	ExAC,gnomAD
rs767481786	p.His262Arg	missense variant	-	NC_000009.12:g.136417102A>G	ExAC,gnomAD
rs1325041351	p.Cys266Tyr	missense variant	-	NC_000009.12:g.136417114G>A	gnomAD
rs953796467	p.Ala267Val	missense variant	-	NC_000009.12:g.136417117C>T	TOPMed,gnomAD
rs1159448943	p.Ala267Thr	missense variant	-	NC_000009.12:g.136417116G>A	gnomAD
rs953796467	p.Ala267Gly	missense variant	-	NC_000009.12:g.136417117C>G	TOPMed,gnomAD
rs868051663	p.Arg268Trp	missense variant	-	NC_000009.12:g.136417119C>T	TOPMed,gnomAD
rs758146224	p.Arg268Gln	missense variant	-	NC_000009.12:g.136417120G>A	ExAC,TOPMed,gnomAD
rs377133704	p.Leu271Phe	missense variant	-	NC_000009.12:g.136417128C>T	gnomAD
rs751187226	p.Pro276Ser	missense variant	-	NC_000009.12:g.136417143C>T	ExAC,gnomAD
rs1470108417	p.Pro276Leu	missense variant	-	NC_000009.12:g.136417144C>T	TOPMed,gnomAD
rs1241778540	p.Ala277Ser	missense variant	-	NC_000009.12:g.136417146G>T	gnomAD
rs780575938	p.Trp278Ter	stop gained	-	NC_000009.12:g.136417150G>A	ExAC,TOPMed,gnomAD
rs780575938	p.Trp278Ser	missense variant	-	NC_000009.12:g.136417150G>C	ExAC,TOPMed,gnomAD
rs745329333	p.Gly279Arg	missense variant	-	NC_000009.12:g.136417152G>C	ExAC
rs756603199	p.Ser280Arg	missense variant	-	NC_000009.12:g.136417157C>G	ExAC,TOPMed,gnomAD
rs780572652	p.Ala281Pro	missense variant	-	NC_000009.12:g.136417158G>C	ExAC,gnomAD
rs780572652	p.Ala281Thr	missense variant	-	NC_000009.12:g.136417158G>A	ExAC,gnomAD
rs1164135998	p.Ala283Val	missense variant	-	NC_000009.12:g.136417165C>T	gnomAD
rs1181895004	p.Ala283Ser	missense variant	-	NC_000009.12:g.136417164G>T	TOPMed
rs374905438	p.Val284Leu	missense variant	-	NC_000009.12:g.136417167G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374905438	p.Val284Met	missense variant	-	NC_000009.12:g.136417167G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1205766493	p.Asp285Asn	missense variant	-	NC_000009.12:g.136417170G>A	TOPMed
rs1325528506	p.Asp287Gly	missense variant	-	NC_000009.12:g.136417177A>G	gnomAD
rs748375932	p.Arg288Lys	missense variant	-	NC_000009.12:g.136417180G>A	ExAC,gnomAD
rs777397748	p.Ser289Cys	missense variant	-	NC_000009.12:g.136417183C>G	ExAC,gnomAD
rs777397748	p.Ser289Phe	missense variant	-	NC_000009.12:g.136417183C>T	ExAC,gnomAD
rs1233134648	p.Ala291Thr	missense variant	-	NC_000009.12:g.136417188G>A	TOPMed,gnomAD
rs1274364841	p.Ala291Val	missense variant	-	NC_000009.12:g.136417189C>T	gnomAD
rs1353558121	p.Gln292Glu	missense variant	-	NC_000009.12:g.136417191C>G	TOPMed
COSM6183173	p.Thr294Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136417198C>T	NCI-TCGA Cosmic
rs558684761	p.Thr294Ala	missense variant	-	NC_000009.12:g.136417197A>G	1000Genomes,ExAC,gnomAD
rs3812583	p.Gly295Ala	missense variant	-	NC_000009.12:g.136417201G>C	ExAC,TOPMed,gnomAD
rs1243198327	p.Gly296Glu	missense variant	-	NC_000009.12:g.136417204G>A	TOPMed
NCI-TCGA novel	p.Ile297LeuPheSerTerUnk	frameshift	-	NC_000009.12:g.136417200G>-	NCI-TCGA
rs1283803895	p.Ala298Thr	missense variant	-	NC_000009.12:g.136417209G>A	gnomAD
rs200775950	p.Lys299Asn	missense variant	-	NC_000009.12:g.136417214G>C	1000Genomes
COSM4834435	p.Glu301Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418020G>C	NCI-TCGA Cosmic
rs1402738387	p.Glu301Gly	missense variant	-	NC_000009.12:g.136418021A>G	gnomAD
rs567719340	p.Arg302Gly	missense variant	-	NC_000009.12:g.136418023A>G	gnomAD
rs765984319	p.Arg302Thr	missense variant	-	NC_000009.12:g.136418024G>C	ExAC,TOPMed,gnomAD
rs1195035943	p.Asp303Asn	missense variant	-	NC_000009.12:g.136418026G>A	TOPMed
rs755555058	p.Met304Thr	missense variant	-	NC_000009.12:g.136418030T>C	ExAC,gnomAD
rs146245454	p.Ser305Phe	missense variant	-	NC_000009.12:g.136418033C>T	ESP,ExAC,TOPMed,gnomAD
rs779511647	p.Ser305Pro	missense variant	-	NC_000009.12:g.136418032T>C	ExAC,TOPMed,gnomAD
rs199635711	p.Asn306Ile	missense variant	-	NC_000009.12:g.136418036A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1249757103	p.Asn306Asp	missense variant	-	NC_000009.12:g.136418035A>G	gnomAD
rs199635711	p.Asn306Ser	missense variant	-	NC_000009.12:g.136418036A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1250743860	p.Val307Ile	missense variant	-	NC_000009.12:g.136418038G>A	TOPMed,gnomAD
rs775256844	p.Gly310Ala	missense variant	-	NC_000009.12:g.136418048G>C	TOPMed,gnomAD
rs781266438	p.Pro311Leu	missense variant	-	NC_000009.12:g.136418051C>T	ExAC,TOPMed,gnomAD
rs1167805415	p.Thr312Ile	missense variant	-	NC_000009.12:g.136418054C>T	gnomAD
rs745904011	p.Pro313Ser	missense variant	-	NC_000009.12:g.136418056C>T	ExAC,TOPMed,gnomAD
rs748925451	p.Ile314Met	missense variant	-	NC_000009.12:g.136418061C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile314SerPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.136418054C>-	NCI-TCGA
COSM4832242	p.Ile314Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418059A>G	NCI-TCGA Cosmic
rs1370521408	p.Pro315Leu	missense variant	-	NC_000009.12:g.136418063C>T	gnomAD
rs774243384	p.Pro315Ser	missense variant	-	NC_000009.12:g.136418062C>T	ExAC,gnomAD
rs1370521408	p.Pro315Arg	missense variant	-	NC_000009.12:g.136418063C>G	gnomAD
rs1303691840	p.Glu316Lys	missense variant	-	NC_000009.12:g.136418065G>A	gnomAD
rs375626355	p.Thr318Met	missense variant	-	NC_000009.12:g.136418072C>T	ESP,ExAC,gnomAD
rs766071255	p.Met321Thr	missense variant	-	NC_000009.12:g.136418081T>C	ExAC,TOPMed,gnomAD
rs201495107	p.Met321Val	missense variant	-	NC_000009.12:g.136418080A>G	1000Genomes,ExAC,gnomAD
rs1217486935	p.Leu324Pro	missense variant	-	NC_000009.12:g.136418090T>C	gnomAD
rs1467883332	p.Glu325Gln	missense variant	-	NC_000009.12:g.136418092G>C	gnomAD
rs759075216	p.Ser328Phe	missense variant	-	NC_000009.12:g.136418102C>T	ExAC,TOPMed,gnomAD
rs1255598911	p.Leu330Pro	missense variant	-	NC_000009.12:g.136418108T>C	gnomAD
COSM1489807	p.Asp333Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418562A>C	NCI-TCGA Cosmic
rs930117382	p.Phe334Ile	missense variant	-	NC_000009.12:g.136418564T>A	TOPMed,gnomAD
rs1406167357	p.Ile335Met	missense variant	-	NC_000009.12:g.136418569C>G	gnomAD
rs1358546481	p.Leu340Val	missense variant	-	NC_000009.12:g.136418582T>G	TOPMed
rs769502070	p.Met342Leu	missense variant	-	NC_000009.12:g.136418588A>C	ExAC,TOPMed,gnomAD
rs775076934	p.Met342Thr	missense variant	-	NC_000009.12:g.136418589T>C	ExAC,gnomAD
rs769502070	p.Met342Val	missense variant	-	NC_000009.12:g.136418588A>G	ExAC,TOPMed,gnomAD
rs142338782	p.Met343Arg	missense variant	-	NC_000009.12:g.136418592T>G	ESP,ExAC,TOPMed
rs891374835	p.Met344Ile	missense variant	-	NC_000009.12:g.136418596G>T	gnomAD
rs567377477	p.Gly345Asp	missense variant	-	NC_000009.12:g.136418598G>A	1000Genomes,ExAC,gnomAD
rs1304524264	p.Gly346Arg	missense variant	-	NC_000009.12:g.136418600G>A	TOPMed,gnomAD
rs762226253	p.Ser351Leu	missense variant	-	NC_000009.12:g.136418616C>T	ExAC,gnomAD
rs762226253	p.Ser351Ter	stop gained	-	NC_000009.12:g.136418616C>A	ExAC,gnomAD
rs139245364	p.Ala352Thr	missense variant	-	NC_000009.12:g.136418618G>A	ESP
rs1238341198	p.Gly353Ser	missense variant	-	NC_000009.12:g.136418621G>A	TOPMed
rs1355468386	p.Gly354Glu	missense variant	-	NC_000009.12:g.136418625G>A	gnomAD
rs753981396	p.Pro355Ala	missense variant	-	NC_000009.12:g.136418627C>G	ExAC,gnomAD
RCV000207220	p.Gly356Ser	missense variant	Normal pressure hydrocephalus	NC_000009.12:g.136418630G>A	ClinVar
rs768643552	p.Gly356Ser	missense variant	-	NC_000009.12:g.136418630G>A	gnomAD
rs768643552	p.Gly356Arg	missense variant	-	NC_000009.12:g.136418630G>C	gnomAD
rs201334936	p.Lys357Glu	missense variant	-	NC_000009.12:g.136418633A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751526086	p.Met359Val	missense variant	-	NC_000009.12:g.136418639A>G	ExAC,gnomAD
rs1215303041	p.Phe360Ser	missense variant	-	NC_000009.12:g.136418643T>C	TOPMed
rs1179713369	p.Ser361Phe	missense variant	-	NC_000009.12:g.136418646C>T	gnomAD
rs546508178	p.Arg362Ser	missense variant	-	NC_000009.12:g.136418650G>C	1000Genomes,ExAC,gnomAD
rs781137425	p.Tyr364Cys	missense variant	-	NC_000009.12:g.136418655A>G	ExAC,TOPMed,gnomAD
rs769521470	p.Leu365Pro	missense variant	-	NC_000009.12:g.136418658T>C	ExAC,gnomAD
rs1461274243	p.Val367Met	missense variant	-	NC_000009.12:g.136418663G>A	gnomAD
rs774991147	p.Asn369Ser	missense variant	-	NC_000009.12:g.136418670A>G	ExAC,gnomAD
rs1305913853	p.Arg370Ser	missense variant	-	NC_000009.12:g.136418828G>C	TOPMed
rs1165298940	p.His372Pro	missense variant	-	NC_000009.12:g.136418833A>C	gnomAD
rs147737752	p.His372Gln	missense variant	-	NC_000009.12:g.136418834C>G	ESP,TOPMed
rs1315798209	p.Trp373Ter	stop gained	-	NC_000009.12:g.136418836G>A	gnomAD
rs1365937480	p.Trp373Ter	stop gained	-	NC_000009.12:g.136418837G>A	gnomAD
COSM3905678	p.Met374Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418839T>C	NCI-TCGA Cosmic
rs1359292249	p.Met374Ile	missense variant	-	NC_000009.12:g.136418840G>A	TOPMed,gnomAD
rs1419060729	p.Tyr375Asp	missense variant	-	NC_000009.12:g.136418841T>G	TOPMed,gnomAD
RCV000207168	p.Ala377Thr	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136418847G>A	ClinVar
rs753611141	p.Ala377Ser	missense variant	-	NC_000009.12:g.136418847G>T	ExAC,TOPMed,gnomAD
RCV000624762	p.Ala377Val	missense variant	Inborn genetic diseases	NC_000009.12:g.136418848C>T	ClinVar
RCV000207133	p.Ala377Thr	missense variant	Normal pressure hydrocephalus	NC_000009.12:g.136418847G>A	ClinVar
rs753611141	p.Ala377Thr	missense variant	-	NC_000009.12:g.136418847G>A	ExAC,TOPMed,gnomAD
rs963172852	p.Ala377Val	missense variant	-	NC_000009.12:g.136418848C>T	TOPMed,gnomAD
rs142652706	p.Thr378Ile	missense variant	-	NC_000009.12:g.136418851C>T	ESP,ExAC,TOPMed,gnomAD
rs778499148	p.His381Arg	missense variant	-	NC_000009.12:g.136418860A>G	ExAC,gnomAD
rs747695631	p.Ser383Thr	missense variant	-	NC_000009.12:g.136418866G>C	ExAC,TOPMed,gnomAD
rs747695631	p.Ser383Ile	missense variant	-	NC_000009.12:g.136418866G>T	ExAC,TOPMed,gnomAD
rs1338408845	p.Tyr384Cys	missense variant	-	NC_000009.12:g.136418869A>G	gnomAD
rs1237165159	p.Tyr384Ter	stop gained	-	NC_000009.12:g.136418869dup	TOPMed
rs554330179	p.Glu385Gln	missense variant	-	NC_000009.12:g.136418871G>C	TOPMed,gnomAD
rs554330179	p.Glu385Lys	missense variant	-	NC_000009.12:g.136418871G>A	TOPMed,gnomAD
rs374496927	p.Glu385Asp	missense variant	-	NC_000009.12:g.136418873G>C	ESP,ExAC,gnomAD
rs374496927	p.Glu385Asp	missense variant	-	NC_000009.12:g.136418873G>T	ESP,ExAC,gnomAD
rs747465871	p.Thr387Pro	missense variant	-	NC_000009.12:g.136418877A>C	ExAC,gnomAD
rs747465871	p.Thr387Ala	missense variant	-	NC_000009.12:g.136418877A>G	ExAC,gnomAD
rs1209262204	p.Leu389Arg	missense variant	-	NC_000009.12:g.136418884T>G	TOPMed
rs1156402838	p.Leu390Val	missense variant	-	NC_000009.12:g.136418886C>G	gnomAD
rs746193266	p.Ile392Leu	missense variant	-	NC_000009.12:g.136418892A>C	ExAC,TOPMed,gnomAD
rs141801843	p.Ile392Met	missense variant	-	NC_000009.12:g.136418894C>G	ESP
rs143494427	p.Ala394Thr	missense variant	-	NC_000009.12:g.136418898G>A	ESP,ExAC,TOPMed,gnomAD
rs775836847	p.Ser395Gly	missense variant	-	NC_000009.12:g.136418901A>G	ExAC,gnomAD
rs764270309	p.Ala396Thr	missense variant	-	NC_000009.12:g.136418904G>A	ExAC,TOPMed,gnomAD
rs763357088	p.Asp397His	missense variant	-	NC_000009.12:g.136418907G>C	TOPMed,gnomAD
rs763357088	p.Asp397Asn	missense variant	-	NC_000009.12:g.136418907G>A	TOPMed,gnomAD
rs1302792454	p.Asp397Glu	missense variant	-	NC_000009.12:g.136418909C>A	TOPMed
rs763357088	p.Asp397Tyr	missense variant	-	NC_000009.12:g.136418907G>T	TOPMed,gnomAD
rs780583575	p.Val401Leu	missense variant	-	NC_000009.12:g.136419044G>C	ExAC,TOPMed,gnomAD
rs780583575	p.Val401Phe	missense variant	-	NC_000009.12:g.136419044G>T	ExAC,TOPMed,gnomAD
rs534750502	p.Arg402Ter	stop gained	-	NC_000009.12:g.136419047C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769031961	p.Arg402Gln	missense variant	-	NC_000009.12:g.136419048G>A	ExAC,TOPMed,gnomAD
rs534750502	p.Arg402Gly	missense variant	-	NC_000009.12:g.136419047C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs769031961	p.Arg402Pro	missense variant	-	NC_000009.12:g.136419048G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu403Lys	missense variant	-	NC_000009.12:g.136419050G>A	NCI-TCGA
rs779165807	p.Val405Ile	missense variant	-	NC_000009.12:g.136419056G>A	ExAC,gnomAD
rs1324764959	p.Glu406Asp	missense variant	-	NC_000009.12:g.136419061A>T	gnomAD
rs1375622647	p.Ile407Leu	missense variant	-	NC_000009.12:g.136419062A>C	gnomAD
rs368653146	p.Thr409Ile	missense variant	-	NC_000009.12:g.136419069C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys410Asn	missense variant	-	NC_000009.12:g.136419073G>T	NCI-TCGA
rs1383395152	p.Lys410Glu	missense variant	-	NC_000009.12:g.136419071A>G	TOPMed
rs1388185881	p.Glu411Gln	missense variant	-	NC_000009.12:g.136419074G>C	TOPMed
COSM5153319	p.Phe412Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136419079T>A	NCI-TCGA Cosmic
rs1396338384	p.Met415Lys	missense variant	-	NC_000009.12:g.136419087T>A	TOPMed
rs377031022	p.Gly417Ter	stop gained	-	NC_000009.12:g.136419092G>T	ESP,ExAC,TOPMed,gnomAD
rs369695887	p.Gly417Glu	missense variant	-	NC_000009.12:g.136419093G>A	ESP,ExAC,gnomAD
rs377031022	p.Gly417Arg	missense variant	-	NC_000009.12:g.136419092G>A	ESP,ExAC,TOPMed,gnomAD
rs751214293	p.Val419Met	missense variant	-	NC_000009.12:g.136419098G>A	ExAC,TOPMed
NCI-TCGA novel	p.Asp420Tyr	missense variant	-	NC_000009.12:g.136419101G>T	NCI-TCGA
rs761300397	p.Thr421Ala	missense variant	-	NC_000009.12:g.136419104A>G	ExAC,TOPMed,gnomAD
rs201305421	p.Thr421Met	missense variant	-	NC_000009.12:g.136419105C>T	TOPMed,gnomAD
rs781266365	p.Val422Leu	missense variant	-	NC_000009.12:g.136421832G>T	ExAC,TOPMed,gnomAD
rs750424974	p.Leu424Val	missense variant	-	NC_000009.12:g.136421838C>G	ExAC,gnomAD
rs1386521541	p.Arg426Gln	missense variant	-	NC_000009.12:g.136421845G>A	TOPMed,gnomAD
rs1402094001	p.Arg426Ter	stop gained	-	NC_000009.12:g.136421844C>T	TOPMed,gnomAD
rs778685666	p.Ala427Pro	missense variant	-	NC_000009.12:g.136421847G>C	ExAC,gnomAD
rs541550189	p.Thr429Met	missense variant	-	NC_000009.12:g.136421854C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770649202	p.Ser433Pro	missense variant	-	NC_000009.12:g.136421865T>C	ExAC,gnomAD
rs776303342	p.Ser433Ter	stop gained	-	NC_000009.12:g.136421866C>G	ExAC,gnomAD
rs776303342	p.Ser433Leu	missense variant	-	NC_000009.12:g.136421866C>T	ExAC,gnomAD
rs560212236	p.Met434Val	missense variant	-	NC_000009.12:g.136421868A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs770368994	p.Met434Ile	missense variant	-	NC_000009.12:g.136421870G>T	ExAC,gnomAD
rs1260217140	p.Met434Thr	missense variant	-	NC_000009.12:g.136421869T>C	gnomAD
rs775834665	p.Met436Val	missense variant	-	NC_000009.12:g.136421874A>G	ExAC,TOPMed,gnomAD
rs201569001	p.Met436Thr	missense variant	-	NC_000009.12:g.136421875T>C	ESP,ExAC,TOPMed,gnomAD
rs1489517685	p.Met437Ile	missense variant	-	NC_000009.12:g.136421879G>A	gnomAD
rs1201447185	p.Asn438Lys	missense variant	-	NC_000009.12:g.136421882C>G	gnomAD
NCI-TCGA novel	p.Asn438Tyr	missense variant	-	NC_000009.12:g.136421880A>T	NCI-TCGA
rs1477360088	p.Glu440Asp	missense variant	-	NC_000009.12:g.136421888A>C	gnomAD
NCI-TCGA novel	p.Arg442Gly	missense variant	-	NC_000009.12:g.136421892A>G	NCI-TCGA
rs762047870	p.Pro443Ser	missense variant	-	NC_000009.12:g.136421895C>T	ExAC,gnomAD
rs767690696	p.Val444Met	missense variant	-	NC_000009.12:g.136421898G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile445Ser	missense variant	-	NC_000009.12:g.136421902T>G	NCI-TCGA
NCI-TCGA novel	p.Phe446Ile	missense variant	-	NC_000009.12:g.136421904T>A	NCI-TCGA
rs778968490	p.Glu447Lys	missense variant	-	NC_000009.12:g.136421907G>A	ExAC,gnomAD
rs1296866941	p.Glu447Gly	missense variant	-	NC_000009.12:g.136421908A>G	gnomAD
rs958066678	p.Val453Met	missense variant	-	NC_000009.12:g.136421925G>A	gnomAD
rs988068747	p.Leu454Pro	missense variant	-	NC_000009.12:g.136421929T>C	TOPMed,gnomAD
rs758341158	p.Thr456Ser	missense variant	-	NC_000009.12:g.136421935C>G	ExAC,gnomAD
rs758341158	p.Thr456Ile	missense variant	-	NC_000009.12:g.136421935C>T	ExAC,gnomAD
rs777721128	p.Arg457Cys	missense variant	-	NC_000009.12:g.136421937C>T	ExAC,TOPMed,gnomAD
rs777721128	p.Arg457Gly	missense variant	-	NC_000009.12:g.136421937C>G	ExAC,TOPMed,gnomAD
rs141619490	p.Arg457His	missense variant	-	NC_000009.12:g.136421938G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150094306	p.Ser458Phe	missense variant	-	NC_000009.12:g.136421941C>T	ESP,ExAC,TOPMed,gnomAD
rs1260930994	p.Lys460Arg	missense variant	-	NC_000009.12:g.136421947A>G	gnomAD
rs769172549	p.Pro462Ser	missense variant	-	NC_000009.12:g.136421952C>T	ExAC,gnomAD
rs763384655	p.His463Tyr	missense variant	-	NC_000009.12:g.136421955C>T	ExAC,gnomAD
rs774729360	p.Glu464Lys	missense variant	-	NC_000009.12:g.136421958G>A	ExAC,TOPMed,gnomAD
rs767780538	p.Cys466Ser	missense variant	-	NC_000009.12:g.136421964T>A	ExAC,gnomAD
rs767780538	p.Cys466Arg	missense variant	-	NC_000009.12:g.136421964T>C	ExAC,gnomAD
rs750600439	p.Thr467Met	missense variant	-	NC_000009.12:g.136421968C>T	ExAC,gnomAD
rs750600439	p.Thr467Arg	missense variant	-	NC_000009.12:g.136421968C>G	ExAC,gnomAD
rs1420778267	p.Arg470Cys	missense variant	-	NC_000009.12:g.136421976C>T	gnomAD
rs746184762	p.Asn471Lys	missense variant	-	NC_000009.12:g.136423099C>G	ExAC,gnomAD
rs781699307	p.Asn471Tyr	missense variant	-	NC_000009.12:g.136423097A>T	ExAC,gnomAD
rs1163549812	p.Asn471Ser	missense variant	-	NC_000009.12:g.136423098A>G	TOPMed
rs780401832	p.Val472Ala	missense variant	-	NC_000009.12:g.136423101T>C	ExAC,gnomAD
rs182007799	p.Val472Met	missense variant	-	NC_000009.12:g.136423100G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys473Asn	missense variant	-	NC_000009.12:g.136423105G>T	NCI-TCGA
rs749386097	p.Pro474Leu	missense variant	-	NC_000009.12:g.136423107C>T	ExAC,TOPMed,gnomAD
rs546087378	p.Glu475Gly	missense variant	-	NC_000009.12:g.136423110A>G	1000Genomes
rs564293153	p.Glu475Asp	missense variant	-	NC_000009.12:g.136423111A>T	1000Genomes,ExAC,gnomAD
rs774232409	p.Glu475Lys	missense variant	-	NC_000009.12:g.136423109G>A	ExAC,gnomAD
rs1205502141	p.Asp476Gly	missense variant	-	NC_000009.12:g.136423113A>G	gnomAD
rs1484694087	p.Asp476Asn	missense variant	-	NC_000009.12:g.136423112G>A	TOPMed
rs1205502141	p.Asp476Val	missense variant	-	NC_000009.12:g.136423113A>T	gnomAD
rs770809394	p.Val480Ile	missense variant	-	NC_000009.12:g.136423124G>A	ExAC,gnomAD
rs759294217	p.Ala481Pro	missense variant	-	NC_000009.12:g.136423127G>C	ExAC,TOPMed,gnomAD
rs759294217	p.Ala481Thr	missense variant	-	NC_000009.12:g.136423127G>A	ExAC,TOPMed,gnomAD
COSM3655734	p.Ser482Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136423131C>T	NCI-TCGA Cosmic
rs764914117	p.Lys483Asn	missense variant	-	NC_000009.12:g.136423135G>C	ExAC,gnomAD
rs1480634867	p.Lys483Glu	missense variant	-	NC_000009.12:g.136423133A>G	TOPMed,gnomAD
rs370801019	p.Met484Ile	missense variant	-	NC_000009.12:g.136423138G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1408951909	p.Leu485Phe	missense variant	-	NC_000009.12:g.136423139C>T	gnomAD
rs1408951909	p.Leu485Ile	missense variant	-	NC_000009.12:g.136423139C>A	gnomAD
rs750974011	p.Arg486Gln	missense variant	-	NC_000009.12:g.136423143G>A	ExAC,gnomAD
rs763664183	p.Arg486Ter	stop gained	-	NC_000009.12:g.136423142C>T	ExAC,gnomAD
rs757804177	p.Pro489Leu	missense variant	-	NC_000009.12:g.136423152C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala490Thr	missense variant	-	NC_000009.12:g.136423154G>A	NCI-TCGA
rs373832306	p.Ala493Thr	missense variant	-	NC_000009.12:g.136423163G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly495Cys	missense variant	-	NC_000009.12:g.136423169G>T	NCI-TCGA
rs1402044437	p.Asp496Glu	missense variant	-	NC_000009.12:g.136423174C>A	TOPMed
rs1490474361	p.Thr502Met	missense variant	-	NC_000009.12:g.136423191C>T	gnomAD
rs1490474361	p.Thr502Lys	missense variant	-	NC_000009.12:g.136423191C>A	gnomAD
rs1260706411	p.His505Tyr	missense variant	-	NC_000009.12:g.136423199C>T	gnomAD
rs146286285	p.His505Leu	missense variant	-	NC_000009.12:g.136423200A>T	ESP,ExAC,TOPMed,gnomAD
rs1186720733	p.His505Gln	missense variant	-	NC_000009.12:g.136423201C>A	gnomAD
NCI-TCGA novel	p.Gln507His	missense variant	-	NC_000009.12:g.136423207G>C	NCI-TCGA
rs745716223	p.Thr508Ala	missense variant	-	NC_000009.12:g.136423208A>G	ExAC,gnomAD
rs745716223	p.Thr508Pro	missense variant	-	NC_000009.12:g.136423208A>C	ExAC,gnomAD
rs368032224	p.Ala509Thr	missense variant	-	NC_000009.12:g.136423211G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu510ArgPheSerTerUnk	frameshift	-	NC_000009.12:g.136423208_136423209insCCGC	NCI-TCGA
rs762679492	p.Ser511Leu	missense variant	-	NC_000009.12:g.136423218C>T	ExAC,gnomAD
rs1431996460	p.Ser512Thr	missense variant	-	NC_000009.12:g.136423221G>C	gnomAD
rs1422287087	p.Ser512Arg	missense variant	-	NC_000009.12:g.136423222T>A	TOPMed
rs773942515	p.Asp514Gly	missense variant	-	NC_000009.12:g.136423227A>G	ExAC,gnomAD
rs869025293	p.Gly515Arg	missense variant	-	NC_000009.12:g.136423229G>A	gnomAD
RCV000207072	p.Gly515Arg	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136423229G>A	ClinVar
rs768196711	p.Arg516His	missense variant	-	NC_000009.12:g.136423233G>A	ExAC,gnomAD
rs745718181	p.Arg516Cys	missense variant	-	NC_000009.12:g.136423232C>T	TOPMed,gnomAD
rs756626552	p.Thr520Met	missense variant	-	NC_000009.12:g.136423245C>T	ExAC,gnomAD
rs561780092	p.Arg522Gln	missense variant	-	NC_000009.12:g.136423251G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1024902017	p.Arg522Trp	missense variant	-	NC_000009.12:g.136423250C>T	TOPMed,gnomAD
rs754105230	p.Leu523Val	missense variant	-	NC_000009.12:g.136423253C>G	ExAC,gnomAD
rs1385264986	p.Phe524Leu	missense variant	-	NC_000009.12:g.136423256T>C	gnomAD
rs778968155	p.Arg525Trp	missense variant	-	NC_000009.12:g.136423259C>T	ExAC,TOPMed,gnomAD
rs748306818	p.Arg525Gln	missense variant	-	NC_000009.12:g.136423260G>A	ExAC,TOPMed,gnomAD
rs1320619683	p.Ter526Glu	stop lost	-	NC_000009.12:g.136423262T>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004138	Ataxias, Hereditary	group	GENOMICS_ENGLAND
C0004941	Behavioral Symptoms	group	HPO
C0007194	Hypertrophic Cardiomyopathy	disease	CLINVAR
C0007758	Cerebellar Ataxia	phenotype	BEFREE;HPO
C0013336	Dwarfism	disease	BEFREE
C0013362	Dysarthria	disease	HPO
C0013371	Shigella Infections	group	BEFREE
C0020258	Hydrocephalus, Normal Pressure	disease	CLINVAR
C0023012	Language Delay	phenotype	HPO
C0025362	Mental Retardation	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0026838	Muscle Spasticity	phenotype	HPO
C0028738	Nystagmus	disease	HPO
C0029124	Optic Atrophy	disease	CLINVAR
C0037932	Curvature of spine	phenotype	HPO
C0040822	Tremor	phenotype	HPO
C0078917	Albinism, Ocular	disease	HPO
C0086543	Cataract	disease	HPO
C0151889	Hyperreflexia	phenotype	HPO
C0231246	Failure to gain weight	phenotype	CLINVAR
C0231686	Gait, Unsteady	phenotype	HPO
C0233514	Abnormal behavior	phenotype	HPO
C0233715	Speech impairment	phenotype	HPO
C0234162	Cerebellar Dysmetria	phenotype	HPO
C0239804	White hair	phenotype	HPO
C0241210	Speech Delay	phenotype	HPO
C0241816	Global brain atrophy	phenotype	CLINVAR
C0266470	Cerebellar Hypoplasia	disease	GENOMICS_ENGLAND;HPO
C0393525	Progressive cerebellar ataxia	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0454644	Delayed speech and language development	phenotype	HPO
C0456909	Blindness	phenotype	CLINVAR
C0520966	Abnormal coordination	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C0575081	Gait abnormality	group	HPO
C0700208	Acquired scoliosis	phenotype	HPO
C0750937	Ataxia, Appendicular	phenotype	HPO
C0751651	Mitochondrial Diseases	group	GENOMICS_ENGLAND
C0751837	Gait Ataxia	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1510497	Lens Opacities	phenotype	HPO
C1611184	Calcification of coronary artery	phenotype	GWASDB
C1836479	Saccadic smooth pursuit	phenotype	HPO
C1839437	Chronic lactic acidosis	phenotype	CLINVAR
C1843367	Poor school performance	phenotype	HPO
C1849923	Generalized hypopigmentation	phenotype	HPO
C1854699	Diffuse cerebellar atrophy	phenotype	CLINVAR
C1854919	Severe psychomotor retardation	phenotype	CLINVAR
C1858120	Generalized hypotonia	phenotype	HPO
C1859298	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1860834	Infantile muscular hypotonia	phenotype	CLINVAR
C1864897	Cognitive delay	phenotype	HPO
C1865916	Bilateral ptosis	phenotype	CLINVAR
C2675435	Restrictive external ophthalmoplegia, bilateral	phenotype	CLINVAR
C3203358	Hypoventilation	phenotype	CLINVAR
C3714745	Malabsorption	phenotype	HPO
C3714756	Intellectual Disability	group	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4024753	Abnormality of the retinal vasculature	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004222	metalloendopeptidase activity	TAS
GO:0046872	metal ion binding	IEA
GO:0004175	endopeptidase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006508	proteolysis	TAS
GO:0006627	protein processing involved in protein targeting to mitochondrion	IBA
GO:0006627	protein processing involved in protein targeting to mitochondrion	IDA
GO:0006627	protein processing involved in protein targeting to mitochondrion	IMP
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	HDA
GO:0005739	mitochondrion	IDA
GO:0005739	mitochondrion	IBA
GO:0005743	mitochondrial inner membrane	TAS
GO:0005743	mitochondrial inner membrane	IBA
GO:0005743	mitochondrial inner membrane	IDA
GO:0017087	mitochondrial processing peptidase complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1268020	Mitochondrial protein import	IEA
R-HSA-382551	Transport of small molecules	TAS
R-HSA-8949215	Mitochondrial calcium ion transport	TAS
R-HSA-8949664	Processing of SMDT1	TAS
R-HSA-9609507	Protein localization	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PMPCA mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of PMPCA protein	26558463
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in increased expression of PMPCA mRNA	20406850
D000082	Acetaminophen	Acetaminophen affects the expression of PMPCA mRNA	25704631
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PMPCA mRNA	16483693
C006780	bisphenol A	bisphenol A affects the expression of PMPCA mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of PMPCA mRNA	25181051
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PMPCA mRNA	28628672
C013418	bromfenacoum	bromfenacoum results in increased expression of PMPCA protein	28903499
C584509	C646 compound	C646 compound results in increased expression of PMPCA mRNA	26191083
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of PMPCA protein	21699967
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of PMPCA mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of PMPCA protein	16803524
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PMPCA mRNA	19320972
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PMPCA protein	24386269
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PMPCA mRNA	28628672
D004237	Diuron	Diuron results in increased expression of PMPCA mRNA	21551480
D004317	Doxorubicin	Doxorubicin results in decreased expression of PMPCA mRNA	29803840
D000431	Ethanol	Ethanol affects the splicing of PMPCA mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PMPCA mRNA	17942748
D005485	Flutamide	Flutamide results in increased expression of PMPCA mRNA	24136188
D005557	Formaldehyde	Formaldehyde results in decreased expression of PMPCA mRNA	23649840
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PMPCA mRNA	28628672
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of PMPCA mRNA	27392435
D007649	Ketamine	Ketamine results in increased expression of PMPCA mRNA	20080153
C005219	methyl cellosolve	methyl cellosolve results in increased expression of PMPCA mRNA	21061450
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of PMPCA protein	26558463
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PMPCA mRNA	23649840
C000622638	MLN7243	MLN7243 results in increased sumoylation of PMPCA protein	31285264
C051752	nefazodone	nefazodone results in increased expression of PMPCA mRNA	24136188
C009618	O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	PON1 gene polymorphism affects the susceptibility to [O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate affects the expression of PMPCA mRNA]	21673326
D010634	Phenobarbital	Phenobarbital affects the expression of PMPCA mRNA	19159669
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of PMPCA mRNA	21061450
D010795	Phthalic Acids	Phthalic Acids results in increased expression of PMPCA mRNA	21061450
D010936	Plant Extracts	Plant Extracts results in increased expression of PMPCA mRNA	23557933
D059808	Polyphenols	Polyphenols results in decreased expression of PMPCA mRNA	16293270
D012715	Sesame Oil	Sesame Oil results in increased expression of PMPCA mRNA	29191790
C017947	sodium arsenite	sodium arsenite results in increased expression of PMPCA mRNA	29361514
D018038	Sodium Selenite	Sodium Selenite results in increased expression of PMPCA mRNA	18175754
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PMPCA mRNA	17942748
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of PMPCA mRNA	19448997
D014260	Triclosan	Triclosan results in increased expression of PMPCA protein	30219713
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of PMPCA mRNA	26179874
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate results in increased expression of PMPCA protein	24685621
D014415	Tunicamycin	Tunicamycin results in decreased expression of PMPCA mRNA	22378314
D014635	Valproic Acid	Valproic Acid results in increased methylation of PMPCA gene	29154799
C025643	vinclozolin	vinclozolin results in decreased expression of PMPCA mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0472	Membrane
KW-0991	Mental retardation
KW-0496	Mitochondrion
KW-0999	Mitochondrion inner membrane
KW-0523	Neurodegeneration
KW-1185	Reference proteome
KW-0809	Transit peptide

Interpro

InterPro ID	InterPro Term
IPR011249	Metalloenz_LuxS/M16
IPR011765	Pept_M16_N
IPR001431	Pept_M16_Zn_BS
IPR007863	Peptidase_M16_C
IPR037715	PMPCA

PROSITE

PROSITE ID	PROSITE Term
PS00143	INSULINASE

Pfam

Pfam ID	Pfam Term
PF00675	Peptidase_M16
PF05193	Peptidase_M16_C

Gene: PMPCA

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