CleftGeneDB-Search

Gene: MTRR

Basic information

Tag	Content
Uniprot ID	Q9UBK8; O60471; Q32MA9; Q7Z4M8;
Entrez ID	4552
Genbank protein ID	AAF17303.1; AAH54816.2; AAF16876.1; AAI09217.1; AAF17304.1; AAC39667.1;
Genbank nucleotide ID	NM_002454.2; NM_024010.2;
Ensembl protein ID	ENSP00000264668; ENSP00000402510;
Ensembl nucleotide ID	ENSG00000124275
Gene name	Methionine synthase reductase
Gene symbol	MTRR
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	26963196; 27167580;
Functional description	Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a complex with MTR to serve as an intermediary in methyl transfer reactions that cycles between MTR-bound methylcob(III)alamin and MTR bound-cob(I)alamin forms, and occasional oxidative escape of the cob(I)alamin intermediate during the catalytic cycle leads to the inactive cob(II)alamin species (Probable). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510). Also necessary for the utilization of methyl groups from the folate cycle, thereby affecting transgenerational epigenetic inheritance (By similarity). Also acts as a molecular chaperone for methionine synthase by stabilizing apoMTR and incorporating methylcob(III)alamin into apoMTR to form the holoenzyme (PubMed:16769880). Also serves as an aquacobalamin reductase by reducing aquacobalamin to cob(II)alamin in the presence of NADPH; this reduction leads to stimulation of the conversion of apoMTR and aquacobalamin to MTR holoenzyme (PubMed:16769880).
Sequence	MRRFLLLYAT QQGQAKAIAE EICEQAVVHG FSADLHCISE SDKYDLKTET APLVVVVSTT 60 GTGDPPDTAR KFVKEIQNQT LPVDFFAHLR YGLLGLGDSE YTYFCNGGKI IDKRLQELGA 120 RHFYDTGHAD DCVGLELVVE PWIAGLWPAL RKHFRSSRGQ EEISGALPVA SPASSRTDLV 180 KSELLHIESQ VELLRFDDSG RKDSEVLKQN AVNSNQSNVV IEDFESSLTR SVPPLSQASL 240 NIPGLPPEYL QVHLQESLGQ EESQVSVTSA DPVFQVPISK AVQLTTNDAI KTTLLVELDI 300 SNTDFSYQPG DAFSVICPNS DSEVQSLLQR LQLEDKREHC VLLKIKADTK KKGATLPQHI 360 PAGCSLQFIF TWCLEIRAIP KKAFLRALVD YTSDSAEKRR LQELCSKQGA ADYSRFVRDA 420 CACLLDLLLA FPSCQPPLSL LLEHLPKLQP RPYSCASSSL FHPGKLHFVF NIVEFLSTAT 480 TEVLRKGVCT GWLALLVASV LQPNIHASHE DSGKALAPKI SISPRTTNSF HLPDDPSIPI 540 IMVGPGTGIA PFIGFLQHRE KLQEQHPDGN FGAMWLFFGC RHKDRDYLFR KELRHFLKHG 600 ILTHLKVSFS RDAPVGEEEA PAKYVQDNIQ LHGQQVARIL LQENGHIYVC GDAKNMAKDV 660 HDALVQIISK EVGVEKLEAM KTLATLKEEK RYLQDIWS 698

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

PDB ID
2QTL
2QTZ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MTRR	507991	F1MGP5		Bos taurus	Prediction	More>>
1:1 ortholog	MTRR	102171193	A0A452F9C4		Capra hircus	Prediction	More>>
1:1 ortholog	MTRR	4552	Q9UBK8	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Mtrr	210009	A0A0R4J0G9		Mus musculus	Prediction	More>>
1:1 ortholog	MTRR	461717	H2QQM3		Pan troglodytes	Prediction	More>>
1:1 ortholog	MTRR		F1S0T1		Sus scrofa	Prediction	More>>
1:1 ortholog	Mtrr	290947	Q498R1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mtrr	560667	F1RE28		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MTRR	rs1801394; c.66A>G	PCR-RFLP	27167580
MTRR	rs1801394; c.66A>G (protective)	meta analysis	32124929
MTRR	rs1801394; c.66A>G	Genotyping	26963196

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs763313419	p.Leu5Val	missense variant	-	NC_000005.10:g.7870807C>G	ExAC,gnomAD
rs751400453	p.Ala9Gly	missense variant	-	NC_000005.10:g.7870820C>G	ExAC,TOPMed,gnomAD
rs1279274094	p.Ala9Thr	missense variant	-	NC_000005.10:g.7870819G>A	gnomAD
rs756074729	p.Gln14Pro	missense variant	-	NC_000005.10:g.7870835A>C	ExAC,gnomAD
rs777323334	p.Ala15Ser	missense variant	-	NC_000005.10:g.7870837G>T	ExAC,TOPMed,gnomAD
rs777323334	p.Ala15Thr	missense variant	-	NC_000005.10:g.7870837G>A	ExAC,TOPMed,gnomAD
rs1303591627	p.Ile18Thr	missense variant	-	NC_000005.10:g.7870847T>C	TOPMed
rs753325140	p.Ile18Val	missense variant	-	NC_000005.10:g.7870846A>G	ExAC,gnomAD
rs114847469	p.Ala19Thr	missense variant	-	NC_000005.10:g.7870849G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs954239819	p.Ala19Val	missense variant	-	NC_000005.10:g.7870850C>T	TOPMed
rs769772796	p.Glu20Lys	missense variant	-	NC_000005.10:g.7870852G>A	TOPMed,gnomAD
rs747426239	p.Glu21Asp	missense variant	-	NC_000005.10:g.7870857A>C	ExAC,gnomAD
rs1801394	p.Ile22Met	missense variant	-	NC_000005.10:g.7870860A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000211244	p.Ile22Met	missense variant	-	NC_000005.10:g.7870860A>G	ClinVar
rs1392496338	p.Cys23Ser	missense variant	-	NC_000005.10:g.7870862G>C	gnomAD
rs781726691	p.Cys23Arg	missense variant	-	NC_000005.10:g.7870861T>C	ExAC,gnomAD
rs1442895511	p.Glu24Gln	missense variant	-	NC_000005.10:g.7870864G>C	gnomAD
rs748657512	p.Gln25Glu	missense variant	-	NC_000005.10:g.7870867C>G	ExAC,TOPMed,gnomAD
rs748657512	p.Gln25Lys	missense variant	-	NC_000005.10:g.7870867C>A	ExAC,TOPMed,gnomAD
rs748657512	p.Gln25Ter	stop gained	-	NC_000005.10:g.7870867C>T	ExAC,TOPMed,gnomAD
rs773463459	p.Val28Ala	missense variant	-	NC_000005.10:g.7870877T>C	ExAC
rs1180892266	p.His29Pro	missense variant	-	NC_000005.10:g.7870880A>C	TOPMed
rs749337272	p.Gly30Glu	missense variant	-	NC_000005.10:g.7870883G>A	ExAC,gnomAD
rs771299380	p.Asp34His	missense variant	-	NC_000005.10:g.7870894G>C	ExAC,gnomAD
rs141118068	p.Asp34Val	missense variant	-	NC_000005.10:g.7870895A>T	ESP,ExAC,TOPMed,gnomAD
rs1270933581	p.His36Tyr	missense variant	-	NC_000005.10:g.7870900C>T	TOPMed,gnomAD
rs1355059196	p.Cys37Ser	missense variant	-	NC_000005.10:g.7870904G>C	TOPMed
rs1285884178	p.Ile38Val	missense variant	-	NC_000005.10:g.7870906A>G	TOPMed
rs1237366737	p.Glu40Asp	missense variant	-	NC_000005.10:g.7870914A>C	TOPMed
rs767281477	p.Asp42Asn	missense variant	-	NC_000005.10:g.7870918G>A	ExAC,gnomAD
rs775343389	p.Asp42Gly	missense variant	-	NC_000005.10:g.7870919A>G	ExAC,gnomAD
rs937595017	p.Lys43Glu	missense variant	-	NC_000005.10:g.7870921A>G	gnomAD
rs1475257055	p.Lys43Arg	missense variant	-	NC_000005.10:g.7870922A>G	gnomAD
rs1327568849	p.Tyr44Cys	missense variant	-	NC_000005.10:g.7873374A>G	gnomAD
rs1245537301	p.Thr48Ser	missense variant	-	NC_000005.10:g.7873386C>G	gnomAD
rs557317536	p.Val54Leu	missense variant	-	NC_000005.10:g.7873403G>C	1000Genomes,ExAC,gnomAD
rs557317536	p.Val54Ile	missense variant	-	NC_000005.10:g.7873403G>A	1000Genomes,ExAC,gnomAD
rs778427395	p.Val54Ala	missense variant	-	NC_000005.10:g.7873404T>C	ExAC,gnomAD
VAR_012837	p.Val54del	inframe_deletion	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
rs749876129	p.Val55Ile	missense variant	-	NC_000005.10:g.7873406G>A	ExAC,TOPMed,gnomAD
rs757825721	p.Val55Ala	missense variant	-	NC_000005.10:g.7873407T>C	ExAC,gnomAD
rs761061866	p.Val56Leu	missense variant	-	NC_000005.10:g.7873409G>T	ExAC,TOPMed,gnomAD
rs761061866	p.Val56Met	missense variant	-	NC_000005.10:g.7873409G>A	ExAC,TOPMed,gnomAD
rs761061866	p.Val56Met	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7873409G>A	UniProt,dbSNP
VAR_012838	p.Val56Met	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7873409G>A	UniProt
rs745929848	p.Val57Ala	missense variant	-	NC_000005.10:g.7873413T>C	ExAC,TOPMed,gnomAD
rs114930926	p.Thr60Ala	missense variant	-	NC_000005.10:g.7873421A>G	1000Genomes
rs369457823	p.Thr60Met	missense variant	-	NC_000005.10:g.7873422C>T	ESP,ExAC,TOPMed,gnomAD
rs1453598509	p.Gly61Ser	missense variant	-	NC_000005.10:g.7873424G>A	TOPMed,gnomAD
rs768376029	p.Gly61Asp	missense variant	-	NC_000005.10:g.7873425G>A	ExAC,TOPMed,gnomAD
rs759310852	p.Gly63Arg	missense variant	-	NC_000005.10:g.7873430G>A	TOPMed,gnomAD
rs761784045	p.Asp67Asn	missense variant	-	NC_000005.10:g.7873442G>A	ExAC,TOPMed,gnomAD
rs769737059	p.Thr68Ala	missense variant	-	NC_000005.10:g.7873445A>G	ExAC
rs777202031	p.Arg70His	missense variant	-	NC_000005.10:g.7873452G>A	ExAC,TOPMed,gnomAD
rs374239028	p.Arg70Cys	missense variant	-	NC_000005.10:g.7873451C>T	ESP,ExAC,TOPMed,gnomAD
rs777202031	p.Arg70Leu	missense variant	-	NC_000005.10:g.7873452G>T	ExAC,TOPMed,gnomAD
RCV000322148	p.Arg70Cys	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7873451C>T	ClinVar
RCV000811882	p.Arg70Cys	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7873451C>T	ClinVar
RCV000545313	p.Arg70His	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7873452G>A	ClinVar
rs759256334	p.Lys71Arg	missense variant	-	NC_000005.10:g.7873455A>G	ExAC,gnomAD
rs1299635422	p.Lys71Glu	missense variant	-	NC_000005.10:g.7873454A>G	gnomAD
rs546104831	p.Phe72Leu	missense variant	-	NC_000005.10:g.7873457T>C	1000Genomes,ExAC,gnomAD
rs1337565844	p.Glu75Ala	missense variant	-	NC_000005.10:g.7873467A>C	gnomAD
rs1270054998	p.Glu75Lys	missense variant	-	NC_000005.10:g.7873466G>A	gnomAD
rs138569211	p.Gln77Arg	missense variant	-	NC_000005.10:g.7873473A>G	ESP,ExAC,TOPMed,gnomAD
rs757746363	p.Asn78Lys	missense variant	-	NC_000005.10:g.7873477C>G	ExAC,TOPMed,gnomAD
rs750493900	p.Gln79His	missense variant	-	NC_000005.10:g.7873480A>C	ExAC,gnomAD
rs377201796	p.Leu81Arg	missense variant	-	NC_000005.10:g.7873485T>G	ESP,ExAC
rs747303076	p.Pro82Leu	missense variant	-	NC_000005.10:g.7873488C>T	ExAC,TOPMed,gnomAD
rs747894104	p.Val83Asp	missense variant	-	NC_000005.10:g.7873491T>A	ExAC,TOPMed,gnomAD
rs1192394382	p.Val83Phe	missense variant	-	NC_000005.10:g.7873490G>T	gnomAD
rs747894104	p.Val83Ala	missense variant	-	NC_000005.10:g.7873491T>C	ExAC,TOPMed,gnomAD
rs1254464770	p.Asp84Gly	missense variant	-	NC_000005.10:g.7873494A>G	TOPMed
rs769637305	p.Phe85Leu	missense variant	-	NC_000005.10:g.7873498C>A	ExAC,gnomAD
rs143579470	p.Ala87Thr	missense variant	-	NC_000005.10:g.7873502G>A	ESP,ExAC,gnomAD
rs770540418	p.His88Gln	missense variant	-	NC_000005.10:g.7873507C>A	ExAC,gnomAD
rs759311230	p.Arg90Gln	missense variant	-	NC_000005.10:g.7873512G>A	ExAC,TOPMed,gnomAD
rs773984668	p.Arg90Trp	missense variant	-	NC_000005.10:g.7873511C>T	ExAC,TOPMed,gnomAD
rs767247740	p.Tyr91Cys	missense variant	-	NC_000005.10:g.7873515A>G	ExAC,gnomAD
rs767247740	p.Tyr91Phe	missense variant	-	NC_000005.10:g.7873515A>T	ExAC,gnomAD
rs1238116731	p.Gly95Asp	missense variant	-	NC_000005.10:g.7875258G>A	gnomAD
rs375323482	p.Leu96Val	missense variant	-	NC_000005.10:g.7875260C>G	ESP,ExAC,TOPMed,gnomAD
rs762091582	p.Thr102Pro	missense variant	-	NC_000005.10:g.7875278A>C	ExAC,TOPMed,gnomAD
rs762091582	p.Thr102Ala	missense variant	-	NC_000005.10:g.7875278A>G	ExAC,TOPMed,gnomAD
rs773439429	p.Tyr103Cys	missense variant	-	NC_000005.10:g.7875282A>G	ExAC,TOPMed,gnomAD
rs1484416611	p.Cys105Gly	missense variant	-	NC_000005.10:g.7875287T>G	gnomAD
rs763568058	p.Asn106Ser	missense variant	-	NC_000005.10:g.7875291A>G	ExAC,gnomAD
rs751657876	p.Lys109Thr	missense variant	-	NC_000005.10:g.7875300A>C	ExAC,TOPMed,gnomAD
rs751657876	p.Lys109Arg	missense variant	-	NC_000005.10:g.7875300A>G	ExAC,TOPMed,gnomAD
rs1181616379	p.Lys109Gln	missense variant	-	NC_000005.10:g.7875299A>C	gnomAD
rs754990692	p.Arg114Ter	stop gained	-	NC_000005.10:g.7875314C>T	ExAC,gnomAD
rs202110383	p.Gln116Lys	missense variant	-	NC_000005.10:g.7875320C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000316476	p.Gln116Lys	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7875320C>A	ClinVar
rs753027704	p.Ala120Val	missense variant	-	NC_000005.10:g.7875333C>T	ExAC,gnomAD
rs201913006	p.Arg121Gln	missense variant	-	NC_000005.10:g.7875336G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146068484	p.Arg121Trp	missense variant	-	NC_000005.10:g.7875335C>T	ESP,ExAC,TOPMed,gnomAD
rs200047657	p.Tyr124Cys	missense variant	-	NC_000005.10:g.7875345A>G	ESP,ExAC,TOPMed,gnomAD
RCV000373506	p.Tyr124Cys	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7875345A>G	ClinVar
rs377233867	p.Gly127Ala	missense variant	-	NC_000005.10:g.7875354G>C	ESP,ExAC,gnomAD
rs140035191	p.His128Tyr	missense variant	-	NC_000005.10:g.7875356C>T	ESP,ExAC,gnomAD
rs140035191	p.His128Asn	missense variant	-	NC_000005.10:g.7875356C>A	ESP,ExAC,gnomAD
rs185235284	p.His128Leu	missense variant	-	NC_000005.10:g.7875357A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs185235284	p.His128Arg	missense variant	-	NC_000005.10:g.7875357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000337918	p.His128Arg	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7875357A>G	ClinVar
VAR_012839	p.Ala129Thr	Missense	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
rs768175244	p.Asp130Gly	missense variant	-	NC_000005.10:g.7875363A>G	ExAC,TOPMed,gnomAD
rs763175326	p.Cys132Ser	missense variant	-	NC_000005.10:g.7875369G>C	ExAC,gnomAD
rs770923981	p.Val133Leu	missense variant	-	NC_000005.10:g.7875371G>C	gnomAD
rs770923981	p.Val133Ile	missense variant	-	NC_000005.10:g.7875371G>A	gnomAD
rs1321252684	p.Gly134Ala	missense variant	-	NC_000005.10:g.7875375G>C	TOPMed
rs368654030	p.Leu135Ser	missense variant	-	NC_000005.10:g.7877946T>C	ESP
rs754157293	p.Leu135Phe	missense variant	-	NC_000005.10:g.7877947A>C	ExAC,TOPMed,gnomAD
rs553846662	p.Pro141Leu	missense variant	-	NC_000005.10:g.7877964C>T	1000Genomes,ExAC,gnomAD
rs142714881	p.Ala149Val	missense variant	-	NC_000005.10:g.7877988C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000435077	p.Ala149Val	missense variant	-	NC_000005.10:g.7877988C>T	ClinVar
rs1320312931	p.Ala149Pro	missense variant	-	NC_000005.10:g.7877987G>C	gnomAD
rs908506872	p.Leu150Phe	missense variant	-	NC_000005.10:g.7877990C>T	TOPMed,gnomAD
rs750209286	p.Lys152Arg	missense variant	-	NC_000005.10:g.7877997A>G	ExAC,gnomAD
rs556611332	p.Arg155Gly	missense variant	-	NC_000005.10:g.7878005A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs919772858	p.Ser156Leu	missense variant	-	NC_000005.10:g.7878009C>T	gnomAD
rs919772858	p.Ser156Ter	stop gained	-	NC_000005.10:g.7878009C>G	gnomAD
rs150853519	p.Arg158Lys	missense variant	-	NC_000005.10:g.7878015G>A	ESP
rs1478151197	p.Gly159Glu	missense variant	-	NC_000005.10:g.7878018G>A	gnomAD
rs1489645588	p.Glu162Asp	missense variant	-	NC_000005.10:g.7878028G>T	TOPMed,gnomAD
rs1411837680	p.Glu162Lys	missense variant	-	NC_000005.10:g.7878026G>A	gnomAD
rs886060804	p.Ile163Val	missense variant	-	NC_000005.10:g.7878029A>G	TOPMed
RCV000293426	p.Ile163Val	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878029A>G	ClinVar
rs779803224	p.Ser164Arg	missense variant	-	NC_000005.10:g.7878032A>C	ExAC,TOPMed,gnomAD
rs779803224	p.Ser164Gly	missense variant	-	NC_000005.10:g.7878032A>G	ExAC,TOPMed,gnomAD
rs1265729929	p.Ser164Asn	missense variant	-	NC_000005.10:g.7878033G>A	TOPMed
rs1299901188	p.Ala166Val	missense variant	-	NC_000005.10:g.7878039C>T	gnomAD
rs114253881	p.Ala166Thr	missense variant	-	NC_000005.10:g.7878038G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114253881	p.Ala166Ser	missense variant	-	NC_000005.10:g.7878038G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769406733	p.Leu167Phe	missense variant	-	NC_000005.10:g.7878041C>T	ExAC,gnomAD
rs757635349	p.Pro168Leu	missense variant	-	NC_000005.10:g.7878045C>T	ExAC,TOPMed,gnomAD
rs1156730016	p.Pro168Ser	missense variant	-	NC_000005.10:g.7878044C>T	gnomAD
rs147742177	p.Val169Met	missense variant	-	NC_000005.10:g.7878047G>A	ESP,ExAC,TOPMed,gnomAD
RCV000350585	p.Val169Met	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878047G>A	ClinVar
rs141053952	p.Ala170Ser	missense variant	-	NC_000005.10:g.7878050G>T	ESP,ExAC,TOPMed,gnomAD
rs141053952	p.Ala170Thr	missense variant	-	NC_000005.10:g.7878050G>A	ESP,ExAC,TOPMed,gnomAD
rs1186905406	p.Ser174Phe	missense variant	-	NC_000005.10:g.7878063C>T	gnomAD
rs1532268	p.Ser175Leu	missense variant	-	NC_000005.10:g.7878066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1532268	p.Ser175Leu	missense variant	-	NC_000005.10:g.7878066C>T	UniProt,dbSNP
VAR_034595	p.Ser175Leu	missense variant	-	NC_000005.10:g.7878066C>T	UniProt
RCV000144927	p.Ser175Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000005.10:g.7878066C>T	ClinVar
rs1182297284	p.Arg176Thr	missense variant	-	NC_000005.10:g.7878069G>C	gnomAD
rs773160237	p.Thr177Ala	missense variant	-	NC_000005.10:g.7878071A>G	ExAC,gnomAD
rs1417585228	p.Asp178Glu	missense variant	-	NC_000005.10:g.7878076C>A	TOPMed,gnomAD
rs762774379	p.Leu179Val	missense variant	-	NC_000005.10:g.7878077C>G	ExAC,gnomAD
rs143978300	p.Val180Leu	missense variant	-	NC_000005.10:g.7878080G>C	ExAC,TOPMed,gnomAD
rs143978300	p.Val180Leu	missense variant	-	NC_000005.10:g.7878080G>T	ExAC,TOPMed,gnomAD
rs143978300	p.Val180Met	missense variant	-	NC_000005.10:g.7878080G>A	ExAC,TOPMed,gnomAD
rs996966324	p.Lys181Arg	missense variant	-	NC_000005.10:g.7878084A>G	TOPMed,gnomAD
rs1448318571	p.His186Arg	missense variant	-	NC_000005.10:g.7878099A>G	gnomAD
rs752182014	p.Ile187Val	missense variant	-	NC_000005.10:g.7878101A>G	ExAC,TOPMed,gnomAD
rs1376668525	p.Glu188Asp	missense variant	-	NC_000005.10:g.7878106A>C	gnomAD
rs755787285	p.Gln190His	missense variant	-	NC_000005.10:g.7878112A>T	ExAC,gnomAD
rs758631703	p.Glu192Asp	missense variant	-	NC_000005.10:g.7878118G>C	ExAC,gnomAD
rs143058455	p.Glu192Lys	missense variant	-	NC_000005.10:g.7878116G>A	ESP
rs747535153	p.Arg195Lys	missense variant	-	NC_000005.10:g.7878126G>A	ExAC,gnomAD
rs769172296	p.Arg195Ser	missense variant	-	NC_000005.10:g.7878127A>T	ExAC,gnomAD
rs1211098985	p.Phe196Val	missense variant	-	NC_000005.10:g.7878128T>G	TOPMed,gnomAD
rs1211098985	p.Phe196Leu	missense variant	-	NC_000005.10:g.7878128T>C	TOPMed,gnomAD
rs748186027	p.Asp197His	missense variant	-	NC_000005.10:g.7878131G>C	ExAC,TOPMed,gnomAD
rs748186027	p.Asp197Asn	missense variant	-	NC_000005.10:g.7878131G>A	ExAC,TOPMed,gnomAD
rs748533060	p.Ser199Ter	stop gained	-	NC_000005.10:g.7878138C>G	ExAC,gnomAD
rs1477648506	p.Gly200Glu	missense variant	-	NC_000005.10:g.7878141G>A	gnomAD
rs766155854	p.Arg201Gly	missense variant	-	NC_000005.10:g.7878143A>G	ExAC,gnomAD
rs774166627	p.Arg201Lys	missense variant	-	NC_000005.10:g.7878144G>A	ExAC,gnomAD
rs368030155	p.Lys202Asn	missense variant	-	NC_000005.10:g.7878148G>C	ExAC,gnomAD
RCV000757494	p.Asp203Tyr	missense variant	-	NC_000005.10:g.7878149G>T	ClinVar
rs1330292970	p.Ser204Phe	missense variant	-	NC_000005.10:g.7878153C>T	gnomAD
rs1445083355	p.Glu205Val	missense variant	-	NC_000005.10:g.7878156A>T	gnomAD
rs752235169	p.Val206Ile	missense variant	-	NC_000005.10:g.7878158G>A	ExAC,gnomAD
rs753545582	p.Ser214Asn	missense variant	-	NC_000005.10:g.7878183G>A	ExAC,gnomAD
rs756928383	p.Ser214Arg	missense variant	-	NC_000005.10:g.7878184C>G	ExAC,gnomAD
rs151170495	p.Asn215His	missense variant	-	NC_000005.10:g.7878185A>C	ESP,ExAC,TOPMed,gnomAD
rs747373546	p.Gln216Lys	missense variant	-	NC_000005.10:g.7878188C>A	ExAC,TOPMed,gnomAD
rs781748543	p.Ser217Cys	missense variant	-	NC_000005.10:g.7878192C>G	ExAC,gnomAD
rs781748543	p.Ser217Phe	missense variant	-	NC_000005.10:g.7878192C>T	ExAC,gnomAD
rs115741769	p.Ser217Pro	missense variant	-	NC_000005.10:g.7878191T>C	1000Genomes,ExAC,gnomAD
rs1450756143	p.Asn218Asp	missense variant	-	NC_000005.10:g.7878194A>G	gnomAD
rs770060665	p.Asn218Lys	missense variant	-	NC_000005.10:g.7878196T>G	ExAC,TOPMed,gnomAD
rs541734980	p.Asn218Ser	missense variant	-	NC_000005.10:g.7878195A>G	1000Genomes,ExAC,gnomAD
rs1478098305	p.Val219Ala	missense variant	-	NC_000005.10:g.7878198T>C	gnomAD
rs372359132	p.Ile221Val	missense variant	-	NC_000005.10:g.7878203A>G	ESP,ExAC,TOPMed,gnomAD
rs1439396842	p.Glu225Lys	missense variant	-	NC_000005.10:g.7878215G>A	TOPMed
rs1170879434	p.Leu228Phe	missense variant	-	NC_000005.10:g.7878224C>T	TOPMed,gnomAD
rs1221143878	p.Leu228Pro	missense variant	-	NC_000005.10:g.7878225T>C	gnomAD
rs1397666505	p.Thr229Ser	missense variant	-	NC_000005.10:g.7878228C>G	gnomAD
rs771164103	p.Arg230Gly	missense variant	-	NC_000005.10:g.7878230C>G	ExAC,TOPMed
rs759336378	p.Arg230His	missense variant	-	NC_000005.10:g.7878231G>A	ExAC,TOPMed,gnomAD
rs771164103	p.Arg230Cys	missense variant	-	NC_000005.10:g.7878230C>T	ExAC,TOPMed
RCV000310859	p.Arg230His	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878231G>A	ClinVar
rs201557658	p.Ser231Leu	missense variant	-	NC_000005.10:g.7878234C>T	ESP,ExAC,TOPMed,gnomAD
rs1377188317	p.Val232Ile	missense variant	-	NC_000005.10:g.7878236G>A	TOPMed
rs760592314	p.Pro233Ser	missense variant	-	NC_000005.10:g.7878239C>T	ExAC,gnomAD
rs760592314	p.Pro233Thr	missense variant	-	NC_000005.10:g.7878239C>A	ExAC,gnomAD
rs1441545979	p.Pro234Ser	missense variant	-	NC_000005.10:g.7878242C>T	TOPMed
rs763658626	p.Pro234Gln	missense variant	-	NC_000005.10:g.7878243C>A	ExAC,gnomAD
rs1238722351	p.Leu235Phe	missense variant	-	NC_000005.10:g.7878245C>T	TOPMed
rs765634416	p.Ser236Leu	missense variant	-	NC_000005.10:g.7878249C>T	TOPMed
rs1355405966	p.Gln237Lys	missense variant	-	NC_000005.10:g.7878251C>A	gnomAD
rs1280421407	p.Ser239Thr	missense variant	-	NC_000005.10:g.7878257T>A	TOPMed
rs371860776	p.Ser239Phe	missense variant	-	NC_000005.10:g.7878258C>T	ExAC,gnomAD
rs1452107142	p.Pro243Ala	missense variant	-	NC_000005.10:g.7878269C>G	TOPMed,gnomAD
rs764892747	p.Gly244Ala	missense variant	-	NC_000005.10:g.7878273G>C	ExAC,gnomAD
rs764892747	p.Gly244Asp	missense variant	-	NC_000005.10:g.7878273G>A	ExAC,gnomAD
rs781683793	p.Leu245Ile	missense variant	-	NC_000005.10:g.7878275T>A	ExAC,gnomAD
rs781683793	p.Leu245Val	missense variant	-	NC_000005.10:g.7878275T>G	ExAC,gnomAD
rs114053717	p.Pro247Ser	missense variant	-	NC_000005.10:g.7878281C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000358385	p.Pro247Ser	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878281C>T	ClinVar
rs1161818977	p.Leu250Ter	stop gained	-	NC_000005.10:g.7878291T>A	gnomAD
rs771089950	p.Gln251Arg	missense variant	-	NC_000005.10:g.7878294A>G	ExAC,gnomAD
rs779125839	p.Val252Leu	missense variant	-	NC_000005.10:g.7878296G>T	ExAC,TOPMed,gnomAD
rs945965809	p.Leu254Met	missense variant	-	NC_000005.10:g.7878302C>A	TOPMed,gnomAD
rs1336533805	p.Gln255Pro	missense variant	-	NC_000005.10:g.7878306A>C	TOPMed
rs1353165398	p.Gln255Ter	stop gained	-	NC_000005.10:g.7878305C>T	TOPMed
rs375908206	p.Glu256Ter	stop gained	-	NC_000005.10:g.7878308G>T	ESP,ExAC,TOPMed,gnomAD
rs2303080	p.Ser257Thr	missense variant	-	NC_000005.10:g.7878311T>A	UniProt,dbSNP
VAR_034596	p.Ser257Thr	missense variant	-	NC_000005.10:g.7878311T>A	UniProt
rs2303080	p.Ser257Thr	missense variant	-	NC_000005.10:g.7878311T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1242426539	p.Ser257Cys	missense variant	-	NC_000005.10:g.7878312C>G	gnomAD
RCV000266246	p.Ser257Thr	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878311T>A	ClinVar
rs369113367	p.Leu258Pro	missense variant	-	NC_000005.10:g.7878315T>C	ESP,ExAC,TOPMed,gnomAD
rs904366915	p.Leu258Phe	missense variant	-	NC_000005.10:g.7878314C>T	TOPMed
rs760645361	p.Gly259Asp	missense variant	-	NC_000005.10:g.7878318G>A	ExAC,gnomAD
rs779871392	p.Glu262Gly	missense variant	-	NC_000005.10:g.7883159A>G	ExAC,gnomAD
rs1256361353	p.Gln264Pro	missense variant	-	NC_000005.10:g.7883165A>C	gnomAD
rs768609406	p.Val265Gly	missense variant	-	NC_000005.10:g.7883168T>G	ExAC,gnomAD
rs768609406	p.Val265Ala	missense variant	-	NC_000005.10:g.7883168T>C	ExAC,gnomAD
rs747621308	p.Pro272Gln	missense variant	-	NC_000005.10:g.7883189C>A	ExAC,gnomAD
rs1377146830	p.Ile278Val	missense variant	-	NC_000005.10:g.7883206A>G	TOPMed,gnomAD
RCV000691198	p.Ile278Val	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7883206A>G	ClinVar
rs79430644	p.Thr286Met	missense variant	-	NC_000005.10:g.7883231C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750009895	p.Asn287Ser	missense variant	-	NC_000005.10:g.7883234A>G	TOPMed,gnomAD
rs750009895	p.Asn287Ile	missense variant	-	NC_000005.10:g.7883234A>T	TOPMed,gnomAD
rs766083570	p.Asp288Gly	missense variant	-	NC_000005.10:g.7883237A>G	ExAC,TOPMed,gnomAD
rs776031136	p.Ala289Thr	missense variant	-	NC_000005.10:g.7883239G>A	ExAC,gnomAD
rs144899305	p.Ile290Thr	missense variant	-	NC_000005.10:g.7883243T>C	ESP,ExAC,TOPMed,gnomAD
RCV000304993	p.Ile290Thr	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7883243T>C	ClinVar
RCV000642243	p.Ile290Thr	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7883243T>C	ClinVar
rs764523081	p.Ile290Met	missense variant	-	NC_000005.10:g.7883244A>G	ExAC,gnomAD
rs138790346	p.Lys291Gln	missense variant	-	NC_000005.10:g.7883245A>C	ESP,TOPMed,gnomAD
rs376109940	p.Thr292Ala	missense variant	-	NC_000005.10:g.7883248A>G	ESP,ExAC,TOPMed,gnomAD
rs115374408	p.Thr293Ile	missense variant	-	NC_000005.10:g.7883252C>T	1000Genomes
rs750478327	p.Glu297Lys	missense variant	-	NC_000005.10:g.7883263G>A	ExAC,gnomAD
rs1178318986	p.Leu298Ser	missense variant	-	NC_000005.10:g.7883267T>C	gnomAD
rs758638445	p.Leu298Val	missense variant	-	NC_000005.10:g.7883266T>G	ExAC,gnomAD
rs1444323611	p.Asp299Asn	missense variant	-	NC_000005.10:g.7883269G>A	TOPMed,gnomAD
rs1267218622	p.Ile300Met	missense variant	-	NC_000005.10:g.7883274T>G	gnomAD
rs1180408744	p.Ile300Thr	missense variant	-	NC_000005.10:g.7883273T>C	TOPMed
rs780207562	p.Ser301Leu	missense variant	-	NC_000005.10:g.7883276C>T	ExAC,gnomAD
rs781093877	p.Thr303Ile	missense variant	-	NC_000005.10:g.7885705C>T	ExAC,gnomAD
rs756111796	p.Asp304Gly	missense variant	-	NC_000005.10:g.7885708A>G	ExAC,gnomAD
rs112125408	p.Tyr307Cys	missense variant	-	NC_000005.10:g.7885717A>G	ExAC,TOPMed,gnomAD
rs777788391	p.Tyr307His	missense variant	-	NC_000005.10:g.7885716T>C	ExAC,gnomAD
rs770624642	p.Gln308Glu	missense variant	-	NC_000005.10:g.7885719C>G	ExAC,gnomAD
rs778560380	p.Gln308Leu	missense variant	-	NC_000005.10:g.7885720A>T	ExAC,gnomAD
rs1225399282	p.Pro309Thr	missense variant	-	NC_000005.10:g.7885722C>A	gnomAD
rs1293089122	p.Gly310Arg	missense variant	-	NC_000005.10:g.7885725G>A	gnomAD
rs745556018	p.Gly310Ala	missense variant	-	NC_000005.10:g.7885726G>C	ExAC,gnomAD
rs771599060	p.Ala312Asp	missense variant	-	NC_000005.10:g.7885732C>A	ExAC,TOPMed,gnomAD
rs771599060	p.Ala312Gly	missense variant	-	NC_000005.10:g.7885732C>G	ExAC,TOPMed,gnomAD
rs773646971	p.Val315Met	missense variant	-	NC_000005.10:g.7885740G>A	ExAC,TOPMed,gnomAD
rs763433943	p.Ile316Phe	missense variant	-	NC_000005.10:g.7885743A>T	ExAC,gnomAD
rs766488995	p.Cys317Phe	missense variant	-	NC_000005.10:g.7885747G>T	ExAC,gnomAD
rs375421492	p.Pro318Ala	missense variant	-	NC_000005.10:g.7885749C>G	ESP,ExAC,TOPMed,gnomAD
rs375421492	p.Pro318Ser	missense variant	-	NC_000005.10:g.7885749C>T	ESP,ExAC,TOPMed,gnomAD
rs1417372870	p.Asn319His	missense variant	-	NC_000005.10:g.7885752A>C	TOPMed,gnomAD
rs1027111731	p.Asn319Ser	missense variant	-	NC_000005.10:g.7885753A>G	TOPMed,gnomAD
rs199762141	p.Ser320Gly	missense variant	-	NC_000005.10:g.7885755A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1446857825	p.Val324Ile	missense variant	-	NC_000005.10:g.7885767G>A	gnomAD
rs138098668	p.Gln325Lys	missense variant	-	NC_000005.10:g.7885770C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1216126515	p.Arg330Ser	missense variant	-	NC_000005.10:g.7885787A>T	TOPMed,gnomAD
rs755809077	p.Leu331Arg	missense variant	-	NC_000005.10:g.7885789T>G	ExAC,TOPMed,gnomAD
rs755809077	p.Leu331Pro	missense variant	-	NC_000005.10:g.7885789T>C	ExAC,TOPMed,gnomAD
rs10064631	p.Leu333Phe	missense variant	-	NC_000005.10:g.7885794C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10064631	p.Leu333Ile	missense variant	-	NC_000005.10:g.7885794C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10064631	p.Leu333Val	missense variant	-	NC_000005.10:g.7885794C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000259869	p.Leu333Val	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7885794C>G	ClinVar
rs1484312888	p.Glu334Asp	missense variant	-	NC_000005.10:g.7885799A>C	TOPMed
rs1057521495	p.Lys336Ter	stop gained	-	NC_000005.10:g.7885803A>T	TOPMed,gnomAD
RCV000441913	p.Lys336Glu	missense variant	-	NC_000005.10:g.7885803A>G	ClinVar
rs1057521495	p.Lys336Glu	missense variant	-	NC_000005.10:g.7885803A>G	TOPMed,gnomAD
rs745313688	p.Arg337Ter	stop gained	-	NC_000005.10:g.7885806A>T	ExAC,gnomAD
rs771787194	p.His339Arg	missense variant	-	NC_000005.10:g.7885813A>G	ExAC,gnomAD
rs1183944927	p.Cys340Gly	missense variant	-	NC_000005.10:g.7885815T>G	TOPMed,gnomAD
rs74790259	p.Val341Ile	missense variant	-	NC_000005.10:g.7885818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770198095	p.Lys344Ter	stop gained	-	NC_000005.10:g.7885827A>T	ExAC,gnomAD
rs140944718	p.Ile345Met	missense variant	-	NC_000005.10:g.7885832A>G	ESP,ExAC,TOPMed,gnomAD
rs763503458	p.Thr349Ser	missense variant	-	NC_000005.10:g.7885842A>T	ExAC,gnomAD
rs162036	p.Lys350Arg	missense variant	-	NC_000005.10:g.7885846A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs162036	p.Lys350Arg	missense variant	-	NC_000005.10:g.7885846A>G	UniProt,dbSNP
VAR_034597	p.Lys350Arg	missense variant	-	NC_000005.10:g.7885846A>G	UniProt
RCV000144925	p.Lys350Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000005.10:g.7885846A>G	ClinVar
rs757997490	p.Lys352Asn	missense variant	-	NC_000005.10:g.7885853A>C	ExAC,TOPMed,gnomAD
rs1192521826	p.Gly353Glu	missense variant	-	NC_000005.10:g.7886615G>A	gnomAD
rs775609322	p.Ala354Thr	missense variant	-	NC_000005.10:g.7886617G>A	ExAC,TOPMed,gnomAD
rs375332745	p.Thr355Ala	missense variant	-	NC_000005.10:g.7886620A>G	ESP,ExAC,gnomAD
rs375332745	p.Thr355Pro	missense variant	-	NC_000005.10:g.7886620A>C	ESP,ExAC,gnomAD
rs764360570	p.Pro357Thr	missense variant	-	NC_000005.10:g.7886626C>A	ExAC,gnomAD
rs776598893	p.Gln358Arg	missense variant	-	NC_000005.10:g.7886630A>G	ExAC,gnomAD
rs1405292334	p.His359Tyr	missense variant	-	NC_000005.10:g.7886632C>T	gnomAD
rs761632409	p.His359Arg	missense variant	-	NC_000005.10:g.7886633A>G	ExAC,TOPMed,gnomAD
rs1367567348	p.Ile360Val	missense variant	-	NC_000005.10:g.7886635A>G	gnomAD
rs765276021	p.Ala362Val	missense variant	-	NC_000005.10:g.7886642C>T	ExAC,TOPMed,gnomAD
rs1277860671	p.Ala362Thr	missense variant	-	NC_000005.10:g.7886641G>A	gnomAD
rs758349872	p.Gly363Glu	missense variant	-	NC_000005.10:g.7886645G>A	ExAC,gnomAD
rs1270557531	p.Gly363Arg	missense variant	-	NC_000005.10:g.7886644G>C	gnomAD
rs1208011938	p.Cys364Phe	missense variant	-	NC_000005.10:g.7886648G>T	gnomAD
rs1293804430	p.Ser365Tyr	missense variant	-	NC_000005.10:g.7886651C>A	gnomAD
rs765844770	p.Ile369Val	missense variant	-	NC_000005.10:g.7886662A>G	ExAC,TOPMed,gnomAD
rs1011595580	p.Trp372Arg	missense variant	-	NC_000005.10:g.7886671T>C	TOPMed
rs1429920725	p.Trp372Cys	missense variant	-	NC_000005.10:g.7886673G>T	gnomAD
rs751034628	p.Cys373Arg	missense variant	-	NC_000005.10:g.7886674T>C	ExAC,gnomAD
rs1374004546	p.Cys373Tyr	missense variant	-	NC_000005.10:g.7886675G>A	gnomAD
rs751034628	p.Cys373Ser	missense variant	-	NC_000005.10:g.7886674T>A	ExAC,gnomAD
rs372106115	p.Leu374Phe	missense variant	-	NC_000005.10:g.7886677C>T	ESP,ExAC,TOPMed,gnomAD
rs772547714	p.Glu375Gln	missense variant	-	NC_000005.10:g.7886680G>C	ExAC,TOPMed,gnomAD
rs1235454495	p.Glu375Gly	missense variant	-	NC_000005.10:g.7886681A>G	TOPMed
rs772547714	p.Glu375Ter	stop gained	-	NC_000005.10:g.7886680G>T	ExAC,TOPMed,gnomAD
rs757677988	p.Ile376Thr	missense variant	-	NC_000005.10:g.7886684T>C	ExAC,gnomAD
rs1382796636	p.Ile376Met	missense variant	-	NC_000005.10:g.7886685C>G	TOPMed,gnomAD
rs559714440	p.Arg377Gln	missense variant	-	NC_000005.10:g.7886687G>A	1000Genomes,ExAC,gnomAD
rs147960130	p.Arg377Ter	stop gained	-	NC_000005.10:g.7886686C>T	ESP,TOPMed
rs1393029352	p.Ala378Thr	missense variant	-	NC_000005.10:g.7886689G>A	TOPMed
rs746404785	p.Ile379Val	missense variant	-	NC_000005.10:g.7886692A>G	ExAC,TOPMed,gnomAD
rs1243456483	p.Ile379Ser	missense variant	-	NC_000005.10:g.7886693T>G	TOPMed,gnomAD
rs1360048756	p.Pro380Leu	missense variant	-	NC_000005.10:g.7886696C>T	gnomAD
rs886060806	p.Pro380Ser	missense variant	-	NC_000005.10:g.7886695C>T	gnomAD
rs886060806	p.Pro380Thr	missense variant	-	NC_000005.10:g.7886695C>A	gnomAD
RCV000263413	p.Pro380Thr	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7886695C>A	ClinVar
rs1352383887	p.Lys381Glu	missense variant	-	NC_000005.10:g.7886698A>G	TOPMed
rs1421007019	p.Arg386Ter	stop gained	-	NC_000005.10:g.7889104C>T	TOPMed,gnomAD
rs368943570	p.Arg386Gln	missense variant	-	NC_000005.10:g.7889105G>A	ESP,ExAC,TOPMed,gnomAD
rs770791399	p.Leu388Phe	missense variant	-	NC_000005.10:g.7889110C>T	ExAC,gnomAD
rs774333382	p.Val389Met	missense variant	-	NC_000005.10:g.7889113G>A	ExAC,gnomAD
RCV000661941	p.Val389Met	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7889113G>A	ClinVar
rs1037417932	p.Asp390Gly	missense variant	-	NC_000005.10:g.7889117A>G	TOPMed,gnomAD
rs1406568412	p.Tyr391Cys	missense variant	-	NC_000005.10:g.7889120A>G	gnomAD
rs759466209	p.Thr392Ser	missense variant	-	NC_000005.10:g.7889123C>G	ExAC,gnomAD
rs1240870498	p.Ser393Gly	missense variant	-	NC_000005.10:g.7889125A>G	TOPMed
rs149678769	p.Asp394Glu	missense variant	-	NC_000005.10:g.7889130C>G	ESP,ExAC,TOPMed,gnomAD
RCV000816569	p.Asp394Glu	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7889130C>G	ClinVar
RCV000387179	p.Asp394Glu	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7889130C>G	ClinVar
rs752183695	p.Ser395Cys	missense variant	-	NC_000005.10:g.7889131A>T	ExAC,gnomAD
rs760268961	p.Ser395Asn	missense variant	-	NC_000005.10:g.7889132G>A	ExAC,gnomAD
rs374979929	p.Arg399Leu	missense variant	-	NC_000005.10:g.7889144G>T	ESP,ExAC,TOPMed,gnomAD
rs374979929	p.Arg399His	missense variant	-	NC_000005.10:g.7889144G>A	ESP,ExAC,TOPMed,gnomAD
rs531325011	p.Arg399Cys	missense variant	-	NC_000005.10:g.7889143C>T	1000Genomes,ExAC,gnomAD
rs1263334440	p.Arg400Gly	missense variant	-	NC_000005.10:g.7889146A>G	gnomAD
VAR_012841	p.Cys405Arg	Missense	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
rs1239051004	p.Ser406Gly	missense variant	-	NC_000005.10:g.7889164A>G	TOPMed,gnomAD
rs1292929074	p.Gln408Arg	missense variant	-	NC_000005.10:g.7889171A>G	TOPMed,gnomAD
rs1178212573	p.Asp412Asn	missense variant	-	NC_000005.10:g.7889182G>A	gnomAD
rs1166012101	p.Tyr413Cys	missense variant	-	NC_000005.10:g.7889186A>G	TOPMed
rs1268284059	p.Tyr413His	missense variant	-	NC_000005.10:g.7889185T>C	gnomAD
rs1426061156	p.Ser414Gly	missense variant	-	NC_000005.10:g.7889188A>G	TOPMed
rs748202026	p.Arg415Leu	missense variant	-	NC_000005.10:g.7889192G>T	ExAC,TOPMed,gnomAD
rs748202026	p.Arg415His	missense variant	-	NC_000005.10:g.7889192G>A	ExAC,TOPMed,gnomAD
rs2287780	p.Arg415Cys	missense variant	-	NC_000005.10:g.7889191C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2287780	p.Arg415Cys	missense variant	-	NC_000005.10:g.7889191C>T	UniProt,dbSNP
VAR_034598	p.Arg415Cys	missense variant	-	NC_000005.10:g.7889191C>T	UniProt
RCV000126872	p.Arg415Cys	missense variant	-	NC_000005.10:g.7889191C>T	ClinVar
rs769915505	p.Phe416Leu	missense variant	-	NC_000005.10:g.7889194T>C	ExAC,TOPMed,gnomAD
rs769915505	p.Phe416Val	missense variant	-	NC_000005.10:g.7889194T>G	ExAC,TOPMed,gnomAD
rs886060807	p.Phe416Leu	missense variant	-	NC_000005.10:g.7889196T>A	TOPMed
RCV000642242	p.Phe416Leu	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7889194T>C	ClinVar
rs749461781	p.Arg418Gln	missense variant	-	NC_000005.10:g.7889201G>A	ExAC,TOPMed,gnomAD
rs777997657	p.Arg418Ter	stop gained	-	NC_000005.10:g.7889200C>T	ExAC,TOPMed,gnomAD
rs749461781	p.Arg418Pro	missense variant	-	NC_000005.10:g.7889201G>C	ExAC,TOPMed,gnomAD
rs770826753	p.Asp419Asn	missense variant	-	NC_000005.10:g.7889203G>A	ExAC,gnomAD
rs759521220	p.Cys421Tyr	missense variant	-	NC_000005.10:g.7889210G>A	ExAC,gnomAD
rs1283581615	p.Cys421Ter	stop gained	-	NC_000005.10:g.7889211T>A	gnomAD
rs1339430227	p.Ala422Ser	missense variant	-	NC_000005.10:g.7889212G>T	gnomAD
rs771949830	p.Ala422Val	missense variant	-	NC_000005.10:g.7889213C>T	ExAC,gnomAD
rs771949830	p.Ala422Gly	missense variant	-	NC_000005.10:g.7889213C>G	ExAC,gnomAD
rs775011169	p.Cys423Trp	missense variant	-	NC_000005.10:g.7889217C>G	ExAC,gnomAD
rs760163475	p.Leu425Ser	missense variant	-	NC_000005.10:g.7889222T>C	ExAC,gnomAD
rs763667405	p.Leu427Val	missense variant	-	NC_000005.10:g.7889227C>G	ExAC,TOPMed,gnomAD
rs763667405	p.Leu427Ile	missense variant	-	NC_000005.10:g.7889227C>A	ExAC,TOPMed,gnomAD
rs1224801855	p.Leu428Phe	missense variant	-	NC_000005.10:g.7889230C>T	gnomAD
rs564953226	p.Ala430Ser	missense variant	-	NC_000005.10:g.7889236G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs564953226	p.Ala430Pro	missense variant	-	NC_000005.10:g.7889236G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs564953226	p.Ala430Thr	missense variant	-	NC_000005.10:g.7889236G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766885971	p.Phe431Leu	missense variant	-	NC_000005.10:g.7889241C>G	ExAC,gnomAD
rs751947278	p.Pro432Leu	missense variant	-	NC_000005.10:g.7889243C>T	ExAC,TOPMed,gnomAD
rs976731910	p.Pro432Ser	missense variant	-	NC_000005.10:g.7889242C>T	TOPMed,gnomAD
rs752734980	p.Ser439Gly	missense variant	-	NC_000005.10:g.7889263A>G	ExAC
rs1303223912	p.Leu440Phe	missense variant	-	NC_000005.10:g.7889266C>T	gnomAD
rs777714107	p.Leu441Gln	missense variant	-	NC_000005.10:g.7889270T>A	ExAC,gnomAD
rs1428227027	p.Leu442Phe	missense variant	-	NC_000005.10:g.7889272C>T	gnomAD
rs1364559668	p.Glu443Lys	missense variant	-	NC_000005.10:g.7889275G>A	TOPMed,gnomAD
rs1203197024	p.His444Gln	missense variant	-	NC_000005.10:g.7891376T>G	gnomAD
rs768451288	p.Leu445His	missense variant	-	NC_000005.10:g.7891378T>A	ExAC,gnomAD
rs776224275	p.Lys447Asn	missense variant	-	NC_000005.10:g.7891385A>T	ExAC
rs1440404360	p.Lys447Glu	missense variant	-	NC_000005.10:g.7891383A>G	TOPMed
rs1240199178	p.Leu448Arg	missense variant	-	NC_000005.10:g.7891387T>G	TOPMed
rs747568149	p.Gln449His	missense variant	-	NC_000005.10:g.7891391A>T	ExAC,TOPMed,gnomAD
rs1462446372	p.Gln449Pro	missense variant	-	NC_000005.10:g.7891390A>C	TOPMed,gnomAD
rs16879334	p.Pro450Arg	missense variant	-	NC_000005.10:g.7891393C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769586426	p.Pro450Ser	missense variant	-	NC_000005.10:g.7891392C>T	ExAC,gnomAD
RCV000382140	p.Pro450Arg	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7891393C>G	ClinVar
rs1407994766	p.Pro452Gln	missense variant	-	NC_000005.10:g.7891399C>A	gnomAD
rs762694475	p.Tyr453His	missense variant	-	NC_000005.10:g.7891401T>C	ExAC,gnomAD
rs137853062	p.Ser454Leu	missense variant	-	NC_000005.10:g.7891405C>T	TOPMed,gnomAD
RCV000007449	p.Ser454Leu	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7891405C>T	ClinVar
RCV000757493	p.Ser454Leu	missense variant	-	NC_000005.10:g.7891405C>T	ClinVar
rs764469824	p.Cys455Ser	missense variant	-	NC_000005.10:g.7891408G>C	ExAC,TOPMed,gnomAD
rs761267473	p.Cys455Ser	missense variant	-	NC_000005.10:g.7891407T>A	ExAC,gnomAD
rs764469824	p.Cys455Tyr	missense variant	-	NC_000005.10:g.7891408G>A	ExAC,TOPMed,gnomAD
rs761821020	p.Ala456Val	missense variant	-	NC_000005.10:g.7891411C>T	ExAC,TOPMed,gnomAD
rs753958946	p.Ala456Thr	missense variant	-	NC_000005.10:g.7891410G>A	ExAC,TOPMed,gnomAD
rs1270679425	p.Leu460Val	missense variant	-	NC_000005.10:g.7892734T>G	gnomAD
RCV000625774	p.Leu460Ter	nonsense	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7892735T>G	ClinVar
rs1554006017	p.Leu460Ter	stop gained	-	NC_000005.10:g.7892735T>G	-
rs1372892119	p.Gly464Glu	missense variant	-	NC_000005.10:g.7892747G>A	gnomAD
rs372150634	p.Gly464Arg	missense variant	-	NC_000005.10:g.7892746G>A	ESP,ExAC,gnomAD
rs372150634	p.Gly464Ter	stop gained	-	NC_000005.10:g.7892746G>T	ESP,ExAC,gnomAD
rs375483975	p.Lys465Arg	missense variant	-	NC_000005.10:g.7892750A>G	ESP
rs754790059	p.Lys465Glu	missense variant	-	NC_000005.10:g.7892749A>G	ExAC,TOPMed,gnomAD
rs781040363	p.His467Tyr	missense variant	-	NC_000005.10:g.7892755C>T	ExAC,gnomAD
rs752726008	p.His467Arg	missense variant	-	NC_000005.10:g.7892756A>G	ExAC,gnomAD
rs1282505510	p.Val469Ala	missense variant	-	NC_000005.10:g.7892762T>C	TOPMed
rs915446132	p.Asn471Ser	missense variant	-	NC_000005.10:g.7892768A>G	TOPMed
rs1347341588	p.Ile472Phe	missense variant	-	NC_000005.10:g.7892770A>T	TOPMed
rs756103128	p.Ile472Thr	missense variant	-	NC_000005.10:g.7892771T>C	ExAC,gnomAD
rs777447397	p.Val473Ala	missense variant	-	NC_000005.10:g.7892774T>C	ExAC,gnomAD
rs1387591492	p.Phe475Ile	missense variant	-	NC_000005.10:g.7892779T>A	gnomAD
rs748768368	p.Phe475Ser	missense variant	-	NC_000005.10:g.7892780T>C	ExAC,gnomAD
rs1324508393	p.Leu476Arg	missense variant	-	NC_000005.10:g.7892783T>G	gnomAD
rs1358640424	p.Thr478Ile	missense variant	-	NC_000005.10:g.7892789C>T	gnomAD
rs1358640424	p.Thr478Ser	missense variant	-	NC_000005.10:g.7892789C>G	gnomAD
rs770622496	p.Thr478Pro	missense variant	-	NC_000005.10:g.7892788A>C	ExAC,gnomAD
rs1243592502	p.Ala479Thr	missense variant	-	NC_000005.10:g.7892791G>A	TOPMed,gnomAD
rs1013781615	p.Thr480Ala	missense variant	-	NC_000005.10:g.7892794A>G	TOPMed
rs778373384	p.Thr481Ile	missense variant	-	NC_000005.10:g.7892798C>T	ExAC,gnomAD
rs745518958	p.Glu482Val	missense variant	-	NC_000005.10:g.7892801A>T	ExAC,gnomAD
rs1259186284	p.Val483Phe	missense variant	-	NC_000005.10:g.7892803G>T	gnomAD
rs146475928	p.Arg485Gln	missense variant	-	NC_000005.10:g.7892810G>A	ESP,ExAC,TOPMed,gnomAD
rs137853061	p.Gly487Arg	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7892815G>A	UniProt,dbSNP
VAR_012842	p.Gly487Arg	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7892815G>A	UniProt
rs137853061	p.Gly487Arg	missense variant	-	NC_000005.10:g.7892815G>A	TOPMed
rs1195759319	p.Gly487Glu	missense variant	-	NC_000005.10:g.7892816G>A	TOPMed,gnomAD
RCV000210727	p.Gly487Arg	missense variant	Inborn genetic diseases	NC_000005.10:g.7892815G>A	ClinVar
RCV000007446	p.Gly487Arg	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7892815G>A	ClinVar
rs777022518	p.Val488Leu	missense variant	-	NC_000005.10:g.7892818G>T	ExAC,gnomAD
rs770232997	p.Cys489Arg	missense variant	-	NC_000005.10:g.7892821T>C	ExAC,gnomAD
rs41283145	p.Thr490Ala	missense variant	-	NC_000005.10:g.7892824A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000642245	p.Thr490Ala	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7892824A>G	ClinVar
RCV000506890	p.Thr490Ala	missense variant	-	NC_000005.10:g.7892824A>G	ClinVar
rs148284479	p.Gly491Val	missense variant	-	NC_000005.10:g.7892828G>T	ESP,ExAC,TOPMed,gnomAD
rs148284479	p.Gly491Asp	missense variant	-	NC_000005.10:g.7892828G>A	ESP,ExAC,TOPMed,gnomAD
RCV000289989	p.Gly491Asp	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7892828G>A	ClinVar
rs1040395177	p.Ala498Val	missense variant	-	NC_000005.10:g.7892849C>T	TOPMed,gnomAD
rs766470905	p.Val500Ile	missense variant	-	NC_000005.10:g.7892854G>A	ExAC,gnomAD
rs201376855	p.Ile505Met	missense variant	-	NC_000005.10:g.7892871A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs774507224	p.Ile505Leu	missense variant	-	NC_000005.10:g.7892869A>T	ExAC,gnomAD
rs572087295	p.His506Leu	missense variant	-	NC_000005.10:g.7892873A>T	gnomAD
rs572087295	p.His506Arg	missense variant	-	NC_000005.10:g.7892873A>G	gnomAD
rs752491169	p.Ala507Val	missense variant	-	NC_000005.10:g.7892876C>T	ExAC,gnomAD
rs923228298	p.His509Arg	missense variant	-	NC_000005.10:g.7892882A>G	TOPMed,gnomAD
rs1450089061	p.Glu510Ala	missense variant	-	NC_000005.10:g.7892885A>C	TOPMed,gnomAD
rs1269324233	p.Asp511Glu	missense variant	-	NC_000005.10:g.7892889C>G	TOPMed
rs150411351	p.Gly513Arg	missense variant	-	NC_000005.10:g.7892893G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753414263	p.Gly513Val	missense variant	-	NC_000005.10:g.7892894G>T	ExAC,gnomAD
rs1025977780	p.Lys514Arg	missense variant	-	NC_000005.10:g.7892897A>G	TOPMed
RCV000432196	p.Ala515Val	missense variant	-	NC_000005.10:g.7892900C>T	ClinVar
rs16879355	p.Ala515Val	missense variant	-	NC_000005.10:g.7892900C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149581788	p.Ala517Thr	missense variant	-	NC_000005.10:g.7892905G>A	ESP,ExAC,TOPMed,gnomAD
rs149581788	p.Ala517Pro	missense variant	-	NC_000005.10:g.7892905G>C	ESP,ExAC,TOPMed,gnomAD
rs758047403	p.Pro518Ser	missense variant	-	NC_000005.10:g.7892908C>T	ExAC,gnomAD
rs763970135	p.Ile520Val	missense variant	-	NC_000005.10:g.7895734A>G	ExAC,gnomAD
rs753890281	p.Ser521Phe	missense variant	-	NC_000005.10:g.7895738C>T	ExAC,gnomAD
rs374903302	p.Ile522Val	missense variant	-	NC_000005.10:g.7895740A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1409884223	p.Pro524Ser	missense variant	-	NC_000005.10:g.7895746C>T	gnomAD
rs1343250131	p.Arg525Leu	missense variant	-	NC_000005.10:g.7895750G>T	TOPMed,gnomAD
rs147277149	p.Arg525Ter	stop gained	-	NC_000005.10:g.7895749C>T	ESP,TOPMed,gnomAD
rs1343250131	p.Arg525Pro	missense variant	-	NC_000005.10:g.7895750G>C	TOPMed,gnomAD
rs1343250131	p.Arg525Gln	missense variant	-	NC_000005.10:g.7895750G>A	TOPMed,gnomAD
RCV000254795	p.Arg525Ter	nonsense	-	NC_000005.10:g.7895749C>T	ClinVar
rs758018238	p.Thr526Ala	missense variant	-	NC_000005.10:g.7895752A>G	ExAC,gnomAD
rs375420169	p.Asn528Asp	missense variant	-	NC_000005.10:g.7895758A>G	ESP,ExAC,gnomAD
rs543608145	p.Asn528Thr	missense variant	-	NC_000005.10:g.7895759A>C	1000Genomes,ExAC,gnomAD
rs543608145	p.Asn528Ser	missense variant	-	NC_000005.10:g.7895759A>G	1000Genomes,ExAC,gnomAD
rs926136845	p.Phe530Ser	missense variant	-	NC_000005.10:g.7895765T>C	TOPMed
rs767321681	p.His531Tyr	missense variant	-	NC_000005.10:g.7895767C>T	ExAC
rs771421325	p.Pro533Ser	missense variant	-	NC_000005.10:g.7895773C>T	ExAC,TOPMed,gnomAD
rs778894593	p.Asp535Asn	missense variant	-	NC_000005.10:g.7895779G>A	ExAC,gnomAD
rs772440734	p.Pro539Thr	missense variant	-	NC_000005.10:g.7895791C>A	ExAC,TOPMed,gnomAD
rs772440734	p.Pro539Ser	missense variant	-	NC_000005.10:g.7895791C>T	ExAC,TOPMed,gnomAD
rs775914890	p.Pro539Leu	missense variant	-	NC_000005.10:g.7895792C>T	ExAC,gnomAD
rs752471011	p.Ile541Val	missense variant	-	NC_000005.10:g.7895797A>G	ExAC,TOPMed,gnomAD
rs752471011	p.Ile541Leu	missense variant	-	NC_000005.10:g.7895797A>C	ExAC,TOPMed,gnomAD
rs768608989	p.Met542Leu	missense variant	-	NC_000005.10:g.7895800A>T	ExAC,TOPMed,gnomAD
rs776462257	p.Val543Glu	missense variant	-	NC_000005.10:g.7895804T>A	ExAC,TOPMed,gnomAD
rs776462257	p.Val543Gly	missense variant	-	NC_000005.10:g.7895804T>G	ExAC,TOPMed,gnomAD
rs761674695	p.Gly544Cys	missense variant	-	NC_000005.10:g.7895806G>T	ExAC,gnomAD
rs1293710305	p.Pro551Leu	missense variant	-	NC_000005.10:g.7895828C>T	TOPMed,gnomAD
rs776490741	p.Phe552Leu	missense variant	-	NC_000005.10:g.7895830T>C	ExAC,TOPMed,gnomAD
VAR_015731	p.Gly554Arg	Missense	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
rs765859795	p.Gln557Arg	missense variant	-	NC_000005.10:g.7895846A>G	ExAC,TOPMed,gnomAD
rs115297357	p.His558Asn	missense variant	-	NC_000005.10:g.7895848C>A	1000Genomes,ExAC,gnomAD
rs754603638	p.Arg559Gly	missense variant	-	NC_000005.10:g.7895851A>G	ExAC,gnomAD
rs1416953395	p.Lys561Arg	missense variant	-	NC_000005.10:g.7896869A>G	gnomAD
rs1160859814	p.Gln563His	missense variant	-	NC_000005.10:g.7896876A>C	gnomAD
rs1391339546	p.Glu564Lys	missense variant	-	NC_000005.10:g.7896877G>A	gnomAD
rs1458075785	p.Gln565Lys	missense variant	-	NC_000005.10:g.7896880C>A	gnomAD
rs1336717002	p.Asp568Val	missense variant	-	NC_000005.10:g.7896890A>T	gnomAD
rs1338601522	p.Ala573Gly	missense variant	-	NC_000005.10:g.7896905C>G	TOPMed
rs781416288	p.Met574Val	missense variant	-	NC_000005.10:g.7896907A>G	ExAC,gnomAD
rs143217598	p.Met574Thr	missense variant	-	NC_000005.10:g.7896908T>C	ESP,TOPMed
rs941318399	p.Trp575Gly	missense variant	-	NC_000005.10:g.7896910T>G	TOPMed,gnomAD
rs941318399	p.Trp575Arg	missense variant	-	NC_000005.10:g.7896910T>C	TOPMed,gnomAD
rs771123203	p.Leu576Trp	missense variant	-	NC_000005.10:g.7896914T>G	ExAC,TOPMed,gnomAD
VAR_012843	p.Leu576del	inframe_deletion	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
rs1487911748	p.Gly579Arg	missense variant	-	NC_000005.10:g.7896922G>C	gnomAD
rs1402612371	p.Cys580Ser	missense variant	-	NC_000005.10:g.7896925T>A	TOPMed
rs1290409729	p.Cys580Tyr	missense variant	-	NC_000005.10:g.7896926G>A	gnomAD
rs769695416	p.Arg581Lys	missense variant	-	NC_000005.10:g.7896929G>A	ExAC,gnomAD
rs772862967	p.His582Arg	missense variant	-	NC_000005.10:g.7896932A>G	ExAC,TOPMed,gnomAD
rs949973580	p.His582Asn	missense variant	-	NC_000005.10:g.7896931C>A	TOPMed,gnomAD
rs1473313954	p.Asp584Asn	missense variant	-	NC_000005.10:g.7896937G>A	TOPMed
rs749248453	p.Arg585Lys	missense variant	-	NC_000005.10:g.7896941G>A	ExAC,gnomAD
rs148424643	p.Asp586Glu	missense variant	-	NC_000005.10:g.7896945T>G	1000Genomes,ExAC,gnomAD
rs773855624	p.Tyr587Phe	missense variant	-	NC_000005.10:g.7896947A>T	ExAC,gnomAD
rs368741550	p.Lys591Glu	missense variant	-	NC_000005.10:g.7897066A>G	ESP,ExAC,TOPMed,gnomAD
rs1406055321	p.Lys591Arg	missense variant	-	NC_000005.10:g.7897067A>G	gnomAD
rs146415045	p.Leu593Val	missense variant	-	NC_000005.10:g.7897072C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146415045	p.Leu593Phe	missense variant	-	NC_000005.10:g.7897072C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1293600145	p.Arg594Ter	stop gained	-	NC_000005.10:g.7897075A>T	TOPMed
RCV000627375	p.Arg594Ter	nonsense	-	NC_000005.10:g.7897075A>T	ClinVar
rs766836800	p.His595Arg	missense variant	-	NC_000005.10:g.7897079A>G	ExAC,TOPMed,gnomAD
RCV000144924	p.His595Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000005.10:g.7897078C>T	ClinVar
rs10380	p.His595Tyr	missense variant	-	NC_000005.10:g.7897078C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752176401	p.Phe596Cys	missense variant	-	NC_000005.10:g.7897082T>G	ExAC,gnomAD
rs755408035	p.Leu597Ile	missense variant	-	NC_000005.10:g.7897084C>A	ExAC,TOPMed,gnomAD
rs752681512	p.Lys598Arg	missense variant	-	NC_000005.10:g.7897088A>G	ExAC,gnomAD
rs777801608	p.His599Leu	missense variant	-	NC_000005.10:g.7897091A>T	ExAC,gnomAD
rs777801608	p.His599Arg	missense variant	-	NC_000005.10:g.7897091A>G	ExAC,gnomAD
rs756363513	p.His599Tyr	missense variant	-	NC_000005.10:g.7897090C>T	ExAC,TOPMed,gnomAD
rs1241817740	p.Ile601Leu	missense variant	-	NC_000005.10:g.7897096A>C	gnomAD
rs1191005367	p.Thr603Ile	missense variant	-	NC_000005.10:g.7897103C>T	gnomAD
rs1288365278	p.His604Tyr	missense variant	-	NC_000005.10:g.7897105C>T	TOPMed
rs765296721	p.Leu605Arg	missense variant	-	NC_000005.10:g.7897109T>G	ExAC,gnomAD
rs939239779	p.Lys606Asn	missense variant	-	NC_000005.10:g.7897113G>T	TOPMed
rs114259126	p.Val607Ile	missense variant	-	NC_000005.10:g.7897114G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000441957	p.Val607Ile	missense variant	-	NC_000005.10:g.7897114G>A	ClinVar
rs981325394	p.Phe609Ile	missense variant	-	NC_000005.10:g.7897120T>A	TOPMed
rs778650591	p.Ser610Leu	missense variant	-	NC_000005.10:g.7897124C>T	ExAC,TOPMed,gnomAD
rs745857319	p.Asp612Glu	missense variant	-	NC_000005.10:g.7897131T>A	ExAC,gnomAD
rs771852321	p.Ala613Val	missense variant	-	NC_000005.10:g.7897133C>T	ExAC,TOPMed,gnomAD
rs1318949494	p.Val615Ala	missense variant	-	NC_000005.10:g.7897139T>C	gnomAD
rs371312103	p.Gly616Arg	missense variant	-	NC_000005.10:g.7897141G>A	ESP,ExAC,gnomAD
rs1381471922	p.Glu617Lys	missense variant	-	NC_000005.10:g.7897144G>A	gnomAD
rs1241964702	p.Glu618Lys	missense variant	-	NC_000005.10:g.7897147G>A	gnomAD
rs201802094	p.Val625Met	missense variant	-	NC_000005.10:g.7897168G>A	ExAC,TOPMed,gnomAD
rs62342555	p.Gln626Glu	missense variant	-	NC_000005.10:g.7897171C>G	ExAC,gnomAD
rs62342555	p.Gln626Ter	stop gained	-	NC_000005.10:g.7897171C>T	ExAC,gnomAD
rs144020429	p.Asn628Ser	missense variant	-	NC_000005.10:g.7897178A>G	ESP,ExAC,TOPMed
rs1444159491	p.Ile629Thr	missense variant	-	NC_000005.10:g.7897181T>C	gnomAD
rs1473262246	p.His632Arg	missense variant	-	NC_000005.10:g.7897190A>G	gnomAD
rs1294838883	p.Gly633Asp	missense variant	-	NC_000005.10:g.7897193G>A	TOPMed
rs1305705594	p.Gly633Ser	missense variant	-	NC_000005.10:g.7897192G>A	TOPMed
rs760727881	p.Ala637Ser	missense variant	-	NC_000005.10:g.7897204G>T	ExAC,gnomAD
rs764159535	p.Ala637Val	missense variant	-	NC_000005.10:g.7897205C>T	ExAC,TOPMed,gnomAD
rs764159535	p.Ala637Glu	missense variant	-	NC_000005.10:g.7897205C>A	ExAC,TOPMed,gnomAD
rs1404592166	p.Ile639Ser	missense variant	-	NC_000005.10:g.7897211T>G	TOPMed
rs1394147915	p.Leu640Ile	missense variant	-	NC_000005.10:g.7897213C>A	TOPMed,gnomAD
rs1314261918	p.Leu641Pro	missense variant	-	NC_000005.10:g.7897217T>C	gnomAD
rs1300272351	p.Leu641Phe	missense variant	-	NC_000005.10:g.7897216C>T	TOPMed
rs750142938	p.Glu643Gln	missense variant	-	NC_000005.10:g.7897222G>C	ExAC,gnomAD
RCV000778770	p.Glu643Ter	frameshift	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7897222_7897223insTT	ClinVar
rs79732271	p.Asn644Thr	missense variant	-	NC_000005.10:g.7897226A>C	ExAC,gnomAD
rs374659219	p.Asn644Lys	missense variant	-	NC_000005.10:g.7897227C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141002013	p.Gly645Ser	missense variant	-	NC_000005.10:g.7897228G>A	ESP,ExAC,gnomAD
rs1210965189	p.His646Asn	missense variant	-	NC_000005.10:g.7897231C>A	TOPMed,gnomAD
rs780816682	p.His646Arg	missense variant	-	NC_000005.10:g.7897232A>G	ExAC,TOPMed,gnomAD
rs773372129	p.Ala653Glu	missense variant	-	NC_000005.10:g.7899919C>A	ExAC,TOPMed,gnomAD
rs372481533	p.Ala653Thr	missense variant	-	NC_000005.10:g.7899918G>A	ESP,TOPMed
rs773372129	p.Ala653Val	missense variant	-	NC_000005.10:g.7899919C>T	ExAC,TOPMed,gnomAD
rs562405817	p.Asn655Ser	missense variant	-	NC_000005.10:g.7899925A>G	1000Genomes,ExAC,gnomAD
rs1272597996	p.Met656Val	missense variant	-	NC_000005.10:g.7899927A>G	gnomAD
rs1211893957	p.Lys658Asn	missense variant	-	NC_000005.10:g.7899935G>C	TOPMed
rs751318676	p.Asp659Glu	missense variant	-	NC_000005.10:g.7899938T>G	ExAC,gnomAD
rs1468134821	p.Asp659Tyr	missense variant	-	NC_000005.10:g.7899936G>T	TOPMed
rs972091702	p.Val660Ile	missense variant	-	NC_000005.10:g.7899939G>A	gnomAD
rs148909799	p.His661Arg	missense variant	-	NC_000005.10:g.7899943A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000186041	p.His661Arg	missense variant	-	NC_000005.10:g.7899943A>G	ClinVar
rs1220697965	p.Ala663Gly	missense variant	-	NC_000005.10:g.7899949C>G	TOPMed
rs767507060	p.Gln666His	missense variant	-	NC_000005.10:g.7899959A>C	ExAC,TOPMed,gnomAD
rs1192702371	p.Gln666Arg	missense variant	-	NC_000005.10:g.7899958A>G	gnomAD
rs1487416176	p.Gln666Ter	stop gained	-	NC_000005.10:g.7899957C>T	gnomAD
rs755752404	p.Ile667Val	missense variant	-	NC_000005.10:g.7899960A>G	ExAC,TOPMed,gnomAD
rs1186554585	p.Ile667Met	missense variant	-	NC_000005.10:g.7899962A>G	gnomAD
rs201686214	p.Ser669Asn	missense variant	-	NC_000005.10:g.7899967G>A	ExAC,TOPMed,gnomAD
rs1246446669	p.Lys670Arg	missense variant	-	NC_000005.10:g.7899970A>G	TOPMed,gnomAD
rs748945898	p.Val672Phe	missense variant	-	NC_000005.10:g.7899975G>T	ExAC,TOPMed,gnomAD
rs748945898	p.Val672Ile	missense variant	-	NC_000005.10:g.7899975G>A	ExAC,TOPMed,gnomAD
rs1347756756	p.Gly673Val	missense variant	-	NC_000005.10:g.7899979G>T	gnomAD
rs775031794	p.Val674Gly	missense variant	-	NC_000005.10:g.7899982T>G	ExAC,TOPMed,gnomAD
rs775031794	p.Val674Ala	missense variant	-	NC_000005.10:g.7899982T>C	ExAC,TOPMed,gnomAD
RCV000354530	p.Val674Ala	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7899982T>C	ClinVar
rs1368681639	p.Glu678Gly	missense variant	-	NC_000005.10:g.7899994A>G	gnomAD
rs769163205	p.Ala679Thr	missense variant	-	NC_000005.10:g.7899996G>A	ExAC,gnomAD
rs760291661	p.Thr682Ser	missense variant	-	NC_000005.10:g.7900005A>T	TOPMed
rs1296002312	p.Thr682Ile	missense variant	-	NC_000005.10:g.7900006C>T	gnomAD
rs748646666	p.Thr685Ala	missense variant	-	NC_000005.10:g.7900014A>G	ExAC,gnomAD
rs865805258	p.Glu688Lys	missense variant	-	NC_000005.10:g.7900023G>A	TOPMed
rs1320146714	p.Arg691His	missense variant	-	NC_000005.10:g.7900033G>A	TOPMed,gnomAD
rs148414435	p.Arg691Cys	missense variant	-	NC_000005.10:g.7900032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000174876	p.Arg691Cys	missense variant	-	NC_000005.10:g.7900032C>T	ClinVar
rs1320146714	p.Arg691Leu	missense variant	-	NC_000005.10:g.7900033G>T	TOPMed,gnomAD
rs1251352899	p.Leu693Phe	missense variant	-	NC_000005.10:g.7900038C>T	TOPMed,gnomAD
rs763104140	p.Asp695Gly	missense variant	-	NC_000005.10:g.7900045A>G	ExAC,gnomAD
rs766581986	p.Ile696Thr	missense variant	-	NC_000005.10:g.7900048T>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001430	Adenoma	group	CTD_human
C0002395	Alzheimer's Disease	disease	LHGDN
C0002871	Anemia	disease	HPO
C0002888	Anemia, Megaloblastic	disease	BEFREE;HPO
C0002902	Anencephaly	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE;LHGDN
C0004153	Atherosclerosis	disease	BEFREE
C0005586	Bipolar Disorder	disease	LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007820	Cerebrovascular Disorders	group	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0009241	Cognition Disorders	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE;CTD_human
C0009404	Colorectal Neoplasms	group	CTD_human
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0010346	Crohn Disease	disease	BEFREE
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0013080	Down Syndrome	disease	BEFREE;LHGDN
C0013221	Drug toxicity	group	CTD_human
C0014544	Epilepsy	disease	BEFREE;HPO
C0015230	Exanthema	phenotype	BEFREE
C0016412	Folic Acid Deficiency	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	LHGDN
C0018671	Head and Neck Neoplasms	group	LHGDN
C0018798	Congenital Heart Defects	group	BEFREE;LHGDN
C0019880	Homocystinuria	disease	BEFREE;CTD_human;HPO
C0021364	Male infertility	disease	BEFREE;CTD_human
C0022658	Kidney Diseases	group	BEFREE
C0023380	Lethargy	phenotype	HPO
C0023418	leukemia	disease	BEFREE;LHGDN
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE;CTD_human
C0023453	Leukemia, Lymphocytic, Acute, L2	disease	CTD_human
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025281	Meniere Disease	disease	BEFREE
C0025286	Meningioma	disease	BEFREE;LHGDN
C0025322	Premature Menopause	phenotype	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE;LHGDN
C0026827	Muscle hypotonia	phenotype	HPO
C0027765	nervous system disorder	group	CTD_human
C0027794	Neural Tube Defects	group	BEFREE;LHGDN
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0030567	Parkinson Disease	disease	BEFREE
C0034065	Pulmonary Embolism	disease	BEFREE
C0034885	Rectal Neoplasms	group	BEFREE
C0035229	Respiratory Insufficiency	phenotype	HPO
C0035309	Retinal Diseases	group	BEFREE
C0036341	Schizophrenia	disease	LHGDN
C0036572	Seizures	phenotype	HPO
C0038454	Cerebrovascular accident	group	LHGDN
C0039483	Giant Cell Arteritis	disease	BEFREE
C0041107	Trisomy	group	BEFREE
C0041755	Adverse reaction to drug	group	CTD_human
C0042373	Vascular Diseases	group	BEFREE
C0042487	Venous Thrombosis	phenotype	LHGDN
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0080178	Spina Bifida	disease	BEFREE;LHGDN
C0085215	Ovarian Failure, Premature	disease	BEFREE
C0085669	Acute leukemia	disease	BEFREE
C0149871	Deep Vein Thrombosis	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0154671	Degenerative brain disorder	group	HPO
C0154723	Migraine with Aura	disease	BEFREE
C0155017	Color Blindness, Blue	disease	BEFREE
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0162119	Hemoglobin low	phenotype	HPO
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE
C0178468	Autoimmune thyroid disease	disease	BEFREE
C0205646	Adenoma, Basal Cell	disease	CTD_human
C0205647	Follicular adenoma	disease	CTD_human
C0205648	Adenoma, Microcystic	disease	CTD_human
C0205649	Adenoma, Monomorphic	disease	CTD_human
C0205650	Papillary adenoma	disease	CTD_human
C0205651	Adenoma, Trabecular	disease	CTD_human
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0220994	Hyperammonemia	phenotype	GENOMICS_ENGLAND
C0231246	Failure to gain weight	phenotype	HPO
C0235946	Cerebral atrophy	disease	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238052	Xanthomatosis, Cerebrotendinous	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0268138	Xeroderma Pigmentosum, Complementation Group D	disease	BEFREE
C0268621	Hepatic methionine adenosyltransferase deficiency	disease	BEFREE
C0278877	adult meningioma	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0342704	Deficiency of Cobalamin G	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349458	Cervical intraepithelial neoplasia grade 1	disease	BEFREE
C0349459	Cervical intraepithelial neoplasia grade 2	disease	BEFREE
C0376286	Avitaminosis	group	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0497406	Overweight	phenotype	BEFREE
C0524620	Metabolic Syndrome X	disease	BEFREE
C0547030	Visual disturbance	phenotype	BEFREE
C0557874	Global developmental delay	disease	HPO
C0575081	Gait abnormality	group	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0598608	Hyperhomocysteinemia	disease	BEFREE;CTD_human;LHGDN
C0600139	Prostate carcinoma	disease	BEFREE
C0677607	Hashimoto Disease	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0750974	Brain Tumor, Primary	disease	BEFREE
C0751202	Cystathionine beta-Synthase Deficiency Disease	disease	CTD_human
C0751606	Adult Acute Lymphocytic Leukemia	disease	BEFREE
C0848676	Subfertility, Male	phenotype	CTD_human
C0917731	Male sterility	phenotype	CTD_human
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1332977	Childhood Leukemia	disease	BEFREE
C1458155	Mammary Neoplasms	group	LHGDN
C1510471	Vitamin Deficiency	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE;CTD_human
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1846149	Intellectual disability, progressive	phenotype	HPO
C1848555	Hypomethioninemia	phenotype	HPO
C1848580	Decreased methionine synthase activity	phenotype	HPO
C1856057	Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1857640	Decreased nerve conduction velocity	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1866558	Neural tube defect, folate-sensitive	disease	CTD_human
C1956346	Coronary Artery Disease	disease	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	CTD_human
C2239176	Liver carcinoma	disease	LHGDN
C2315100	Pediatric failure to thrive	disease	HPO
C2697636	Hyperdiploid B Acute Lymphoblastic Leukemia	disease	BEFREE
C3495426	Homocysteinemia	disease	BEFREE
C3806347	Hyperhomocystinemia	phenotype	HPO
C4020855	Respiratory function loss	phenotype	HPO
C4020860	Supratentorial atrophy	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4021736	Decreased methylcobalamin	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4048705	Hypermethioninemia	disease	BEFREE
C4275242	Sudden sensorineural hearing loss	disease	BEFREE
C4302111	Familial M?ni?re disease	disease	GENOMICS_ENGLAND
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003958	NADPH-hemoprotein reductase activity	IDA
GO:0003958	NADPH-hemoprotein reductase activity	IBA
GO:0005515	protein binding	IPI
GO:0010181	FMN binding	IDA
GO:0010181	FMN binding	IBA
GO:0010181	FMN binding	TAS
GO:0016491	oxidoreductase activity	IBA
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA
GO:0016723	oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor	IDA
GO:0030586	[methionine synthase] reductase activity	IDA
GO:0030586	[methionine synthase] reductase activity	TAS
GO:0030586	[methionine synthase] reductase activity	IBA
GO:0050444	aquacobalamin reductase (NADPH) activity	IDA
GO:0050660	flavin adenine dinucleotide binding	IDA
GO:0050660	flavin adenine dinucleotide binding	IBA
GO:0050660	flavin adenine dinucleotide binding	TAS
GO:0050661	NADP binding	TAS
GO:0070402	NADPH binding	IDA
GO:0071949	FAD binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000096	sulfur amino acid metabolic process	TAS
GO:0006306	DNA methylation	ISS
GO:0006555	methionine metabolic process	TAS
GO:0009086	methionine biosynthetic process	IDA
GO:0009086	methionine biosynthetic process	IBA
GO:0009235	cobalamin metabolic process	TAS
GO:0032259	methylation	TAS
GO:0033353	S-adenosylmethionine cycle	ISS
GO:0043418	homocysteine catabolic process	IDA
GO:0046655	folic acid metabolic process	ISS
GO:0046655	folic acid metabolic process	IDA
GO:0050667	homocysteine metabolic process	IBA
GO:0055114	oxidation-reduction process	TAS
GO:1904042	negative regulation of cystathionine beta-synthase activity	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	IBA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-156580	Phase II - Conjugation of compounds	TAS
R-HSA-156581	Methylation	TAS
R-HSA-1614635	Sulfur amino acid metabolism	TAS
R-HSA-1643685	Disease	TAS
R-HSA-196741	Cobalamin (Cbl, vitamin B12) transport and metabolism	TAS
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-211859	Biological oxidations	TAS
R-HSA-3296469	Defects in cobalamin (B12) metabolism	TAS
R-HSA-3296482	Defects in vitamin and cofactor metabolism	TAS
R-HSA-3359467	Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE	TAS
R-HSA-3359469	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	TAS
R-HSA-5668914	Diseases of metabolism	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of MTRR mRNA	22698814
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of MTRR mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of MTRR mRNA	18648102
C005984	5-methyltetrahydrofolate	MTRR protein affects the abundance of 5-methyltetrahydrofolate	17369066
D000082	Acetaminophen	Acetaminophen results in decreased expression of MTRR mRNA	25704631
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MTRR gene	27153756
D000447	Aldehydes	Aldehydes results in decreased expression of MTRR mRNA	25014914
D001151	Arsenic	MTRR protein affects the metabolism of Arsenic	18682255
C006780	bisphenol A	bisphenol A affects the expression of MTRR mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased methylation of MTRR 3' UTR	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of MTRR intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of MTRR intron	30906313
C006780	bisphenol A	bisphenol A affects the expression of MTRR mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of MTRR mRNA	30816183
C013418	bromfenacoum	bromfenacoum results in increased expression of MTRR protein	28903499
C018475	butyraldehyde	butyraldehyde results in decreased expression of MTRR mRNA	26079696
D002110	Caffeine	Caffeine results in decreased expression of MTRR mRNA	20864626
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of MTRR mRNA	27339419
D002794	Choline	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTRR mRNA	23439872
D016572	Cyclosporine	Cyclosporine results in decreased expression of MTRR mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in increased expression of MTRR mRNA	19770486
D004317	Doxorubicin	Doxorubicin results in decreased expression of MTRR mRNA	29803840
D000431	Ethanol	Ethanol affects the splicing of MTRR mRNA	30319688
D005492	Folic Acid	Folic Acid affects the expression of MTRR mRNA	17311948
D005492	Folic Acid	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTRR mRNA	23439872
D005492	Folic Acid	Folic Acid inhibits the reaction [Methotrexate results in decreased expression of MTRR mRNA]	30502384
D006710	Homocysteine	MTRR protein affects the abundance of Homocysteine	17369066
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of MTRR mRNA	20044591
D007213	Indomethacin	Indomethacin results in increased expression of MTRR mRNA	28201806
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of MTRR mRNA	27339419
D008694	Methamphetamine	Methamphetamine results in increased expression of MTRR mRNA	29802913
D008715	Methionine	MTRR protein affects the abundance of Methionine	17369066
D008727	Methotrexate	Folic Acid inhibits the reaction [Methotrexate results in decreased expression of MTRR mRNA]	30502384
D008727	Methotrexate	Methotrexate results in decreased expression of MTRR mRNA	30502384
D008727	Methotrexate	DHFR protein inhibits the reaction [Methotrexate results in decreased expression of MTRR mRNA]	30502384
C013598	methoxyacetic acid	methoxyacetic acid results in decreased expression of MTRR mRNA	20864626
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MTRR mRNA	20864626
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of MTRR mRNA	26011545
C028577	monobutyl phthalate	monobutyl phthalate results in decreased expression of MTRR mRNA	20864626
D009532	Nickel	Nickel results in increased expression of MTRR mRNA	25583101
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of MTRR mRNA	30529165
C046012	pentanal	pentanal results in decreased expression of MTRR mRNA	26079696
D010634	Phenobarbital	Phenobarbital results in increased expression of MTRR mRNA	19270015
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of MTRR mRNA	22714537
D011192	Potassium Dichromate	Potassium Dichromate affects the expression of MTRR mRNA	23608068
D012402	Rotenone	Rotenone results in increased expression of MTRR mRNA	19013527
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of MTRR mRNA	25351596
D000077210	Sunitinib	Sunitinib results in increased expression of MTRR mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MTRR mRNA	21215274
D014635	Valproic Acid	Valproic Acid affects the expression of MTRR mRNA	25979313
D014635	Valproic Acid	Valproic Acid affects the expression of MTRR mRNA	17292431
D014638	Vanadates	Vanadates results in decreased expression of MTRR mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of MTRR gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of MTRR mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0028	Amino-acid biosynthesis
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0274	FAD
KW-0285	Flavoprotein
KW-0288	FMN
KW-0486	Methionine biosynthesis
KW-0521	NADP
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0949	S-adenosyl-L-methionine

Interpro

InterPro ID	InterPro Term
IPR003097	CysJ-like_FAD-binding
IPR017927	FAD-bd_FR_type
IPR001094	Flavdoxin-like
IPR008254	Flavodoxin/NO_synth
IPR001709	Flavoprot_Pyr_Nucl_cyt_Rdtase
IPR029039	Flavoprotein-like_sf
IPR039261	FNR_nucleotide-bd
IPR023173	NADPH_Cyt_P450_Rdtase_alpha
IPR001433	OxRdtase_FAD/NAD-bd
IPR017938	Riboflavin_synthase-like_b-brl

PROSITE

PROSITE ID	PROSITE Term
PS51384	FAD_FR
PS50902	FLAVODOXIN_LIKE

Pfam

Pfam ID	Pfam Term
PF00667	FAD_binding_1
PF00258	Flavodoxin_1
PF00175	NAD_binding_1

Gene: MTRR

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

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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