CleftGeneDB-Search

Gene: MMACHC

Basic information

Tag	Content
Uniprot ID	Q9Y4U1; Q5T157; Q9BRQ7;
Entrez ID	25974
Genbank protein ID	CAB45693.2; AAH06122.3;
Genbank nucleotide ID	NM_001330540.1; NM_015506.2;
Ensembl protein ID	ENSP00000383840
Ensembl nucleotide ID	ENSG00000132763
Gene name	Cyanocobalamin reductase / alkylcobalamin dealkylase
Gene symbol	MMACHC
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate (PubMed:18779575, PubMed:19700356, PubMed:21697092, PubMed:25809485). Cyanocobalamin constitutes the inactive form of vitamin B12 introduced from the diet, and is converted into the active cofactors methylcobalamin (MeCbl) involved in methionine biosynthesis, and 5'-deoxyadenosylcobalamin (AdoCbl) involved in the TCA cycle (PubMed:19801555). Forms a complex with the lysosomal transporter ABCD4 and its chaperone LMBRD1, to transport cobalamin across the lysosomal membrane into the cytosol (PubMed:25535791). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:21071249, PubMed:27771510). Also acts as a glutathione transferase by catalyzing the dealkylation of the alkylcob(III)alamins MeCbl and AdoCbl, using the thiolate of glutathione for nucleophilic displacement to generate cob(I)alamin and the corresponding glutathione thioether (PubMed:19801555, PubMed:21697092, PubMed:22642810, PubMed:25809485). The conversion of incoming MeCbl or AdoCbl into a common intermediate cob(I)alamin is necessary to meet the cellular needs for both cofactors (PubMed:19801555). Cysteine and homocysteine cannot substitute for glutathione in this reaction (PubMed:19801555).
Sequence	MEPKVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPLPGPTLAF LVLSTPAMFD 60 RALKPFLQSC HLRMLTDPVD QCVAYHLGRV RESLPELQIE IIADYEVHPN RRPKILAQTA 120 AHVAGAAYYY QRQDVEADPW GNQRISGVCI HPRFGGWFAI RGVVLLPGIE VPDLPPRKPH 180 DCVPTRADRI ALLEGFNFHW RDWTYRDAVT PQERYSEEQK AYFSTPPAQR LALLGLAQPS 240 EKPSSPSPDL PFTTPAPKKP GNPSRARSWL SPRVSPPASP GP 282

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
3SBY
3SBZ
3SC0
3SOM
5UOS
3SBY
3SC0
3SOM

Protein disorder information

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MMACHC		Q5E9C8		Bos taurus	Prediction	More>>
1:1 ortholog	MMACHC	102183931	A0A452G8L9		Capra hircus	Prediction	More>>
1:1 ortholog	MMACHC	25974	Q9Y4U1		Homo sapiens	Prediction	More>>
1:1 ortholog	Mmachc	67096	Q9CZD0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MMACHC	469180	H2PYX3		Pan troglodytes	Prediction	More>>
1:1 ortholog	MMACHC	100347413	G1SQ06		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Mmachc	313520	D4A729		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mmachc		F1QZ86		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000664762	p.Met1Ile	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500335G>A	ClinVar
RCV000666093	p.Met1Val	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500333A>G	ClinVar
RCV000440436	p.Met1Val	missense variant	-	NC_000001.11:g.45500333A>G	ClinVar
RCV000672157	p.Met1Thr	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500334T>C	ClinVar
RCV000673566	p.Met1Arg	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500334T>G	ClinVar
rs543492649	p.Glu2Val	missense variant	-	NC_000001.11:g.45500337A>T	1000Genomes,ExAC,gnomAD
rs1454919873	p.Glu2Lys	missense variant	-	NC_000001.11:g.45500336G>A	TOPMed
rs201807738	p.Pro3Arg	missense variant	-	NC_000001.11:g.45500340C>G	ESP,ExAC,TOPMed,gnomAD
rs1204198077	p.Lys4Thr	missense variant	-	NC_000001.11:g.45500343A>C	TOPMed,gnomAD
rs780981680	p.Val5Ala	missense variant	-	NC_000001.11:g.45500346T>C	ExAC,TOPMed,gnomAD
rs780981680	p.Val5Asp	missense variant	-	NC_000001.11:g.45500346T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val5Ile	missense variant	-	NC_000001.11:g.45500345G>A	NCI-TCGA
rs747875672	p.Ala6Ser	missense variant	-	NC_000001.11:g.45500348G>T	ExAC,gnomAD
rs377405910	p.Glu7Lys	missense variant	-	NC_000001.11:g.45500351G>A	ESP,ExAC,TOPMed,gnomAD
rs772838196	p.Gln10His	missense variant	-	NC_000001.11:g.45500362G>C	ExAC,gnomAD
rs770446383	p.Lys11Asn	missense variant	-	NC_000001.11:g.45500365G>T	ExAC,gnomAD
rs748798542	p.Lys11Met	missense variant	-	NC_000001.11:g.45500364A>T	ExAC,gnomAD
rs773695165	p.Ile12Leu	missense variant	-	NC_000001.11:g.45500366A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu13Ter	stop gained	-	NC_000001.11:g.45500369G>T	NCI-TCGA
rs761257132	p.Glu13Lys	missense variant	-	NC_000001.11:g.45500369G>A	ExAC,TOPMed,gnomAD
rs761257132	p.Glu13Gln	missense variant	-	NC_000001.11:g.45500369G>C	ExAC,TOPMed,gnomAD
rs1010232462	p.Glu13Ala	missense variant	-	NC_000001.11:g.45500370A>C	TOPMed
NCI-TCGA novel	p.Asp14Gly	missense variant	-	NC_000001.11:g.45500373A>G	NCI-TCGA
rs563710045	p.Asp14Asn	missense variant	-	NC_000001.11:g.45500372G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1352943462	p.Thr15Ala	missense variant	-	NC_000001.11:g.45500375A>G	TOPMed
rs765601770	p.Thr15Met	missense variant	-	NC_000001.11:g.45500376C>T	ExAC,gnomAD
rs1197773707	p.Leu16Val	missense variant	-	NC_000001.11:g.45500378C>G	gnomAD
rs1299984717	p.Leu16Pro	missense variant	-	NC_000001.11:g.45500379T>C	gnomAD
rs766500038	p.Cys17Arg	missense variant	-	NC_000001.11:g.45500381T>C	ExAC,gnomAD
rs751539831	p.Cys17Tyr	missense variant	-	NC_000001.11:g.45500382G>A	ExAC,gnomAD
rs1323856934	p.Pro18Ser	missense variant	-	NC_000001.11:g.45500384C>T	gnomAD
rs371004372	p.Pro18Leu	missense variant	-	NC_000001.11:g.45500385C>T	ESP,ExAC,TOPMed,gnomAD
rs371004372	p.Pro18His	missense variant	-	NC_000001.11:g.45500385C>A	ESP,ExAC,TOPMed,gnomAD
rs1273105824	p.Phe19Ser	missense variant	-	NC_000001.11:g.45500388T>C	TOPMed,gnomAD
rs375909359	p.Gly20Asp	missense variant	-	NC_000001.11:g.45500391G>A	ESP,TOPMed,gnomAD
rs781106513	p.Glu22Val	missense variant	-	NC_000001.11:g.45500397A>T	ExAC,gnomAD
rs1478779847	p.Glu22Lys	missense variant	-	NC_000001.11:g.45500396G>A	gnomAD
rs201898615	p.Val23Phe	missense variant	-	NC_000001.11:g.45500399G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000308210	p.Val23Phe	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45500399G>T	ClinVar
rs755881820	p.Tyr24Ter	stop gained	-	NC_000001.11:g.45500404C>A	ExAC,gnomAD
RCV000669100	p.Tyr24Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500404C>A	ClinVar
rs1325442638	p.Pro25Thr	missense variant	-	NC_000001.11:g.45500405C>A	TOPMed
rs777332324	p.Pro25His	missense variant	-	NC_000001.11:g.45500406C>A	ExAC,gnomAD
rs770431439	p.Phe26Leu	missense variant	-	NC_000001.11:g.45500410C>A	ExAC,TOPMed,gnomAD
rs1318571220	p.Phe26Val	missense variant	-	NC_000001.11:g.45500408T>G	TOPMed
RCV000667730	p.Gln27Arg	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500412A>G	ClinVar
rs546099787	p.Gln27Arg	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45500412A>G	UniProt,dbSNP
VAR_024770	p.Gln27Arg	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45500412A>G	UniProt
rs546099787	p.Gln27Arg	missense variant	-	NC_000001.11:g.45500412A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs371937044	p.Val28Leu	missense variant	-	NC_000001.11:g.45507356G>T	gnomAD
rs371937044	p.Val28Met	missense variant	-	NC_000001.11:g.45507356G>A	gnomAD
rs1289618918	p.AlaTrpTyrAsnGlu29AlaTerUnk	stop gained	-	NC_000001.11:g.45507364_45507371del	TOPMed
rs771673343	p.Trp30Ter	stop gained	-	NC_000001.11:g.45507364G>A	ExAC,TOPMed,gnomAD
rs745419717	p.Trp30Arg	missense variant	-	NC_000001.11:g.45507362T>C	ExAC,TOPMed,gnomAD
RCV000671638	p.Trp30Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507364G>A	ClinVar
rs1400192154	p.Tyr31His	missense variant	-	NC_000001.11:g.45507365T>C	gnomAD
rs367990231	p.Glu33Gly	missense variant	-	NC_000001.11:g.45507372A>G	ESP,ExAC,TOPMed,gnomAD
rs758974575	p.Leu34Phe	missense variant	-	NC_000001.11:g.45507374C>T	ExAC,gnomAD
rs770139367	p.Pro36Leu	missense variant	-	NC_000001.11:g.45507381C>T	ExAC,TOPMed,gnomAD
rs770139367	p.Pro36Arg	missense variant	-	NC_000001.11:g.45507381C>G	ExAC,TOPMed,gnomAD
rs1353976831	p.Pro37Ser	missense variant	-	NC_000001.11:g.45507383C>T	gnomAD
rs763226016	p.Pro42Leu	missense variant	-	NC_000001.11:g.45507399C>T	ExAC,TOPMed,gnomAD
rs774414508	p.Pro44Arg	missense variant	-	NC_000001.11:g.45507405C>G	ExAC,TOPMed,gnomAD
rs1312343436	p.Gly45Arg	missense variant	-	NC_000001.11:g.45507407G>C	gnomAD
rs200920274	p.Thr47Asn	missense variant	-	NC_000001.11:g.45507414C>A	ESP,ExAC,TOPMed,gnomAD
rs200920274	p.Thr47Ile	missense variant	-	NC_000001.11:g.45507414C>T	ESP,ExAC,TOPMed,gnomAD
rs1182723536	p.Ala49Val	missense variant	-	NC_000001.11:g.45507420C>T	gnomAD
rs775502093	p.Ala49Thr	missense variant	-	NC_000001.11:g.45507419G>A	ExAC,gnomAD
rs775502093	p.Ala49Ser	missense variant	-	NC_000001.11:g.45507419G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu51Met	missense variant	-	NC_000001.11:g.45507425C>A	NCI-TCGA
rs1468551783	p.Val52Ile	missense variant	-	NC_000001.11:g.45507428G>A	TOPMed,gnomAD
rs201507059	p.Leu53Val	missense variant	-	NC_000001.11:g.45507431C>G	1000Genomes,ExAC,gnomAD
rs756980496	p.Leu53Pro	missense variant	-	NC_000001.11:g.45507432T>C	ExAC,gnomAD
rs201507059	p.Leu53Phe	missense variant	-	NC_000001.11:g.45507431C>T	1000Genomes,ExAC,gnomAD
RCV000585794	p.Leu53Pro	missense variant	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	NC_000001.11:g.45507432T>C	ClinVar
rs1173221159	p.Ser54Asn	missense variant	-	NC_000001.11:g.45507435G>A	gnomAD
rs750127773	p.Ser54Arg	missense variant	-	NC_000001.11:g.45507436C>G	ExAC,TOPMed,gnomAD
rs375330130	p.Thr55Met	missense variant	-	NC_000001.11:g.45507438C>T	ESP,ExAC,TOPMed,gnomAD
COSM1343052	p.Pro56Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.45507440C>T	NCI-TCGA Cosmic
rs756713628	p.Met58Thr	missense variant	-	NC_000001.11:g.45507447T>C	ExAC,gnomAD
rs778133848	p.Phe59Leu	missense variant	-	NC_000001.11:g.45507449T>C	ExAC,gnomAD
rs6662272	p.Asp60His	missense variant	-	NC_000001.11:g.45507452G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000362925	p.Asp60His	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45507452G>C	ClinVar
RCV000186023	p.Arg61Trp	missense variant	-	NC_000001.11:g.45507455C>T	ClinVar
RCV000552129	p.Arg61Trp	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507455C>T	ClinVar
RCV000641153	p.Arg61Gln	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507456G>A	ClinVar
rs200483477	p.Arg61Trp	missense variant	-	NC_000001.11:g.45507455C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201777449	p.Arg61Pro	missense variant	-	NC_000001.11:g.45507456G>C	ESP,ExAC,TOPMed,gnomAD
rs201777449	p.Arg61Gln	missense variant	-	NC_000001.11:g.45507456G>A	ESP,ExAC,TOPMed,gnomAD
rs568459545	p.Ser69Asn	missense variant	-	NC_000001.11:g.45507480G>A	1000Genomes
RCV000186024	p.Arg73Ter	nonsense	-	NC_000001.11:g.45507491C>T	ClinVar
RCV000671572	p.Arg73Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507491C>T	ClinVar
rs796051995	p.Arg73Ter	stop gained	-	NC_000001.11:g.45507491C>T	TOPMed,gnomAD
rs772225967	p.Met74Ile	missense variant	-	NC_000001.11:g.45507496G>T	ExAC,TOPMed,gnomAD
rs772225967	p.Met74Ile	missense variant	-	NC_000001.11:g.45507496G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met74Ile	missense variant	-	NC_000001.11:g.45507496G>A	NCI-TCGA
rs1193157698	p.Leu75Pro	missense variant	-	NC_000001.11:g.45507498T>C	gnomAD
rs1451573070	p.Thr76Ser	missense variant	-	NC_000001.11:g.45507501C>G	gnomAD
rs1217366809	p.Asp77Gly	missense variant	-	NC_000001.11:g.45507504A>G	TOPMed
RCV000781545	p.Asp77Gly	missense variant	-	NC_000001.11:g.45507504A>G	ClinVar
rs952771687	p.Pro78Thr	missense variant	-	NC_000001.11:g.45507506C>A	TOPMed,gnomAD
rs952771687	p.Pro78Ala	missense variant	-	NC_000001.11:g.45507506C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro78Gln	missense variant	-	NC_000001.11:g.45507507C>A	NCI-TCGA
rs1438340899	p.Val79Ala	missense variant	-	NC_000001.11:g.45507510T>C	TOPMed
RCV000394444	p.Gln81Ter	nonsense	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45507515C>T	ClinVar
rs373246922	p.Gln81Glu	missense variant	-	NC_000001.11:g.45507515C>G	ESP,ExAC,gnomAD
rs373246922	p.Gln81Ter	stop gained	-	NC_000001.11:g.45507515C>T	ESP,ExAC,gnomAD
rs1396266726	p.Cys82Tyr	missense variant	-	NC_000001.11:g.45507519G>A	gnomAD
rs776402014	p.Leu87Val	missense variant	-	NC_000001.11:g.45507533C>G	ExAC,TOPMed,gnomAD
rs200109668	p.Arg89Gly	missense variant	-	NC_000001.11:g.45507539C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs376520909	p.Arg89His	missense variant	-	NC_000001.11:g.45507540G>A	ESP,ExAC,TOPMed,gnomAD
rs200109668	p.Arg89Ser	missense variant	-	NC_000001.11:g.45507539C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200109668	p.Arg89Cys	missense variant	-	NC_000001.11:g.45507539C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000477768	p.Arg91Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507544dup	ClinVar
RCV000507720	p.Arg91Ter	frameshift	-	NC_000001.11:g.45507545dup	ClinVar
RCV000081737	p.Arg91Ter	frameshift	-	NC_000001.11:g.45507545dup	ClinVar
RCV000585799	p.Arg91Ter	frameshift	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	NC_000001.11:g.45507545dup	ClinVar
RCV000308836	p.Arg91Ter	frameshift	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45507545dup	ClinVar
RCV000001486	p.Arg91Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507545dup	ClinVar
rs556977618	p.Glu92Asp	missense variant	-	NC_000001.11:g.45507550G>T	TOPMed,gnomAD
RCV000148298	p.Glu92Asp	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507550G>T	ClinVar
RCV000672078	p.Glu92Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507545_45507546AG[1]	ClinVar
rs1483123280	p.Pro95Ser	missense variant	-	NC_000001.11:g.45508218C>T	gnomAD
RCV000674067	p.Glu96Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508220dup	ClinVar
rs759188647	p.Gln98Ter	stop gained	-	NC_000001.11:g.45508227C>T	ExAC,gnomAD
RCV000591994	p.Gln98Ter	nonsense	-	NC_000001.11:g.45508227C>T	ClinVar
rs370229341	p.Ile99Thr	missense variant	-	NC_000001.11:g.45508231T>C	ESP,ExAC,TOPMed,gnomAD
rs1313219207	p.Ile102Thr	missense variant	-	NC_000001.11:g.45508240T>C	gnomAD
rs752195629	p.Ile102Val	missense variant	-	NC_000001.11:g.45508239A>G	ExAC,gnomAD
rs757711772	p.Asp104Asn	missense variant	-	NC_000001.11:g.45508245G>A	ExAC
rs1553162829	p.Asp104Val	missense variant	-	NC_000001.11:g.45508246A>T	-
RCV000669122	p.Asp104Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508245_45508248del	ClinVar
RCV000519990	p.Asp104Val	missense variant	-	NC_000001.11:g.45508246A>T	ClinVar
rs528744719	p.Tyr105Ter	stop gained	-	NC_000001.11:g.45508250C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000669305	p.Tyr105Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508250C>G	ClinVar
RCV000552788	p.Glu106Lys	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508251G>A	ClinVar
rs201617713	p.Glu106Lys	missense variant	-	NC_000001.11:g.45508251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000415822	p.Glu106Lys	missense variant	-	NC_000001.11:g.45508251G>A	ClinVar
rs758730415	p.Val107Met	missense variant	-	NC_000001.11:g.45508254G>A	ExAC,gnomAD
rs747214324	p.Pro109Leu	missense variant	-	NC_000001.11:g.45508261C>T	ExAC,TOPMed,gnomAD
RCV000323956	p.Pro109Leu	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508261C>T	ClinVar
RCV000531346	p.Asn110Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508263_45508266del	ClinVar
RCV000186035	p.Asn110Ter	frameshift	-	NC_000001.11:g.45508263_45508266del	ClinVar
rs781133955	p.Asn110Ser	missense variant	-	NC_000001.11:g.45508264A>G	ExAC,TOPMed,gnomAD
rs537151830	p.Asn110His	missense variant	-	NC_000001.11:g.45508263A>C	1000Genomes,ExAC,gnomAD
rs781133955	p.Asn110Thr	missense variant	-	NC_000001.11:g.45508264A>C	ExAC,TOPMed,gnomAD
rs200300254	p.Arg111Gln	missense variant	-	NC_000001.11:g.45508267G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121918242	p.Arg111Ter	stop gained	-	NC_000001.11:g.45508266C>T	ESP,ExAC,TOPMed,gnomAD
RCV000001489	p.Arg111Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508266C>T	ClinVar
RCV000186026	p.Arg111Ter	nonsense	-	NC_000001.11:g.45508266C>T	ClinVar
rs187869948	p.Arg112Cys	missense variant	-	NC_000001.11:g.45508269C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762885252	p.Arg112His	missense variant	-	NC_000001.11:g.45508270G>A	ExAC,TOPMed,gnomAD
RCV000359909	p.Arg112Cys	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508269C>T	ClinVar
rs762885252	p.Arg112Leu	missense variant	-	NC_000001.11:g.45508270G>T	ExAC,TOPMed,gnomAD
rs759127801	p.Pro113Leu	missense variant	-	NC_000001.11:g.45508273C>T	ExAC,TOPMed,gnomAD
rs1361592186	p.Lys114Arg	missense variant	-	NC_000001.11:g.45508276A>G	gnomAD
rs933920882	p.Ile115Val	missense variant	-	NC_000001.11:g.45508278A>G	TOPMed,gnomAD
rs933920882	p.Ile115Phe	missense variant	-	NC_000001.11:g.45508278A>T	TOPMed,gnomAD
rs121918240	p.Leu116Pro	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508282T>C	UniProt,dbSNP
VAR_024771	p.Leu116Pro	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508282T>C	UniProt
rs121918240	p.Leu116Pro	missense variant	-	NC_000001.11:g.45508282T>C	ExAC,TOPMed,gnomAD
RCV000001487	p.Leu116Pro	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508282T>C	ClinVar
rs368634899	p.Ala117Val	missense variant	-	NC_000001.11:g.45508285C>T	ESP,ExAC,gnomAD
rs752205161	p.Ala117Pro	missense variant	-	NC_000001.11:g.45508284G>C	ExAC,TOPMed
rs368634899	p.Ala117Asp	missense variant	-	NC_000001.11:g.45508285C>A	ESP,ExAC,gnomAD
RCV000667746	p.Ala117Pro	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508284G>C	ClinVar
RCV000641152	p.Gln118Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508287del	ClinVar
RCV000506122	p.Gln118Ter	frameshift	-	NC_000001.11:g.45508287del	ClinVar
RCV000627427	p.Gln118Ter	frameshift	-	NC_000001.11:g.45508287del	ClinVar
rs778671895	p.Thr119Pro	missense variant	-	NC_000001.11:g.45508290A>C	ExAC,TOPMed,gnomAD
rs778671895	p.Thr119Ala	missense variant	-	NC_000001.11:g.45508290A>G	ExAC,TOPMed,gnomAD
rs1006520706	p.Thr119Lys	missense variant	-	NC_000001.11:g.45508291C>A	TOPMed,gnomAD
rs1006520706	p.Thr119Arg	missense variant	-	NC_000001.11:g.45508291C>G	TOPMed,gnomAD
rs1033086300	p.Ala120Thr	missense variant	-	NC_000001.11:g.45508293G>A	TOPMed
rs1033086300	p.Ala120Ser	missense variant	-	NC_000001.11:g.45508293G>T	TOPMed
rs1306325448	p.Ala121Thr	missense variant	-	NC_000001.11:g.45508296G>A	gnomAD
RCV000782135	p.His122Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508299dup	ClinVar
rs1403450697	p.His122Leu	missense variant	-	NC_000001.11:g.45508300A>T	TOPMed
RCV000673415	p.His122Asn	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508299C>A	ClinVar
rs372918203	p.His122Asn	missense variant	-	NC_000001.11:g.45508299C>A	ESP,ExAC,TOPMed,gnomAD
VAR_024772	p.His122Arg	Missense	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]	-	UniProt
NCI-TCGA novel	p.Val123Gly	missense variant	-	NC_000001.11:g.45508303T>G	NCI-TCGA
rs375891664	p.Ala124Val	missense variant	-	NC_000001.11:g.45508306C>T	ESP,TOPMed
rs751883359	p.Gly125Ala	missense variant	-	NC_000001.11:g.45508309G>C	ExAC,TOPMed,gnomAD
rs755220262	p.Tyr129His	missense variant	-	NC_000001.11:g.45508320T>C	ExAC,gnomAD
RCV000674328	p.Tyr129Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508319del	ClinVar
RCV000504286	p.Tyr130Cys	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508324A>G	ClinVar
rs200094982	p.Tyr130Cys	missense variant	-	NC_000001.11:g.45508324A>G	ExAC,TOPMed,gnomAD
rs372670428	p.Tyr130His	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508323T>C	UniProt,dbSNP
VAR_024773	p.Tyr130His	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508323T>C	UniProt
rs372670428	p.Tyr130His	missense variant	-	NC_000001.11:g.45508323T>C	ESP,ExAC,TOPMed,gnomAD
RCV000664503	p.Gln131Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508326C>T	ClinVar
rs1553162857	p.Gln131Ter	stop gained	-	NC_000001.11:g.45508326C>T	-
rs369335868	p.Arg132Gln	missense variant	-	NC_000001.11:g.45508330G>A	ESP,ExAC,TOPMed,gnomAD
rs121918241	p.Arg132Ter	stop gained	-	NC_000001.11:g.45508329C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369335868	p.Arg132Pro	missense variant	-	NC_000001.11:g.45508330G>C	ESP,ExAC,TOPMed,gnomAD
RCV000721968	p.Arg132Ter	nonsense	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	NC_000001.11:g.45508329C>T	ClinVar
RCV000001488	p.Arg132Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508329C>T	ClinVar
RCV000153508	p.Arg132Ter	nonsense	-	NC_000001.11:g.45508329C>T	ClinVar
RCV000434552	p.Arg132Gln	missense variant	-	NC_000001.11:g.45508330G>A	ClinVar
RCV000669321	p.Gln133Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508333_45508334del	ClinVar
RCV000315733	p.Val135Leu	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508338G>T	ClinVar
RCV000668614	p.Val135Leu	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508338G>T	ClinVar
rs886046368	p.Val135Leu	missense variant	-	NC_000001.11:g.45508338G>T	TOPMed,gnomAD
rs374086070	p.Glu136Lys	missense variant	-	NC_000001.11:g.45508341G>A	ESP,ExAC,TOPMed,gnomAD
rs985888174	p.Ala137Thr	missense variant	-	NC_000001.11:g.45508344G>A	TOPMed
rs1296354064	p.Asp138Gly	missense variant	-	NC_000001.11:g.45508348A>G	gnomAD
rs1434024774	p.Asp138Asn	missense variant	-	NC_000001.11:g.45508347G>A	TOPMed
RCV000190393	p.Trp140Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508355G>A	ClinVar
rs796051996	p.Trp140Ter	stop gained	-	NC_000001.11:g.45508355G>A	gnomAD
rs1302721747	p.Gly141Arg	missense variant	-	NC_000001.11:g.45508356G>A	TOPMed
rs760277452	p.Gly141Glu	missense variant	-	NC_000001.11:g.45508357G>A	ExAC,gnomAD
rs377684747	p.Asn142Ser	missense variant	-	NC_000001.11:g.45508360A>G	ESP,ExAC,TOPMed,gnomAD
rs189608856	p.Asn142Lys	missense variant	-	NC_000001.11:g.45508361C>A	1000Genomes
rs1553162868	p.Gln143Ter	stop gained	-	NC_000001.11:g.45508362C>T	-
RCV000674933	p.Gln143Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508362C>T	ClinVar
rs768230660	p.Arg144His	missense variant	-	NC_000001.11:g.45508797G>A	ExAC,TOPMed,gnomAD
rs1390488134	p.Arg144Cys	missense variant	-	NC_000001.11:g.45508796C>T	TOPMed,gnomAD
rs759921519	p.Ile145Thr	missense variant	-	NC_000001.11:g.45508800T>C	ExAC,gnomAD
rs74365027	p.Ile145Leu	missense variant	-	NC_000001.11:g.45508799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74365027	p.Ile145Leu	missense variant	-	NC_000001.11:g.45508799A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74365027	p.Ile145Val	missense variant	-	NC_000001.11:g.45508799A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000374944	p.Ile145Leu	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508799A>T	ClinVar
rs1164100187	p.Ser146Pro	missense variant	-	NC_000001.11:g.45508802T>C	gnomAD
RCV000186029	p.Gly147Asp	missense variant	-	NC_000001.11:g.45508806G>A	ClinVar
rs140522266	p.Gly147Ala	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>C	UniProt,dbSNP
VAR_024774	p.Gly147Ala	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>C	UniProt
rs140522266	p.Gly147Ala	missense variant	-	NC_000001.11:g.45508806G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000576585	p.Gly147Ala	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508806G>C	ClinVar
rs140522266	p.Gly147Asp	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>A	UniProt,dbSNP
VAR_024775	p.Gly147Asp	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>A	UniProt
rs140522266	p.Gly147Asp	missense variant	-	NC_000001.11:g.45508806G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000186034	p.Cys149Ter	frameshift	-	NC_000001.11:g.45508807_45508808TG[2]	ClinVar
rs1161394470	p.Cys149Tyr	missense variant	-	NC_000001.11:g.45508812G>A	gnomAD
RCV000641154	p.Cys149Tyr	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508812G>A	ClinVar
rs756413692	p.Ile150Thr	missense variant	-	NC_000001.11:g.45508815T>C	ExAC,TOPMed,gnomAD
rs764409631	p.His151Arg	missense variant	-	NC_000001.11:g.45508818A>G	ExAC,gnomAD
rs754032179	p.Pro152Leu	missense variant	-	NC_000001.11:g.45508821C>T	ExAC,TOPMed,gnomAD
rs754032179	p.Pro152His	missense variant	-	NC_000001.11:g.45508821C>A	ExAC,TOPMed,gnomAD
rs200276195	p.Arg153Gln	missense variant	-	NC_000001.11:g.45508824G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757325789	p.Arg153Ter	stop gained	-	NC_000001.11:g.45508823C>T	ExAC,TOPMed,gnomAD
rs757325789	p.Arg153Gly	missense variant	-	NC_000001.11:g.45508823C>G	ExAC,TOPMed,gnomAD
RCV000665310	p.Arg153Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508823C>T	ClinVar
rs758208320	p.Phe154Ser	missense variant	-	NC_000001.11:g.45508827T>C	ExAC,TOPMed,gnomAD
rs758208320	p.Phe154Tyr	missense variant	-	NC_000001.11:g.45508827T>A	ExAC,TOPMed,gnomAD
rs606231425	p.Gly155Glu	missense variant	-	NC_000001.11:g.45508830G>A	-
RCV000148300	p.Gly155Glu	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508830G>A	ClinVar
RCV000670372	p.Gly156Asp	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508833G>A	ClinVar
rs1553162910	p.Gly156Asp	missense variant	-	NC_000001.11:g.45508833G>A	-
rs1553162910	p.Gly156Asp	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508833G>A	UniProt,dbSNP
VAR_024776	p.Gly156Asp	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508833G>A	UniProt
rs768353633	p.Gly156Ser	missense variant	-	NC_000001.11:g.45508832G>A	ExAC,gnomAD
rs1315916426	p.Trp157Ter	stop gained	-	NC_000001.11:g.45508836G>A	gnomAD
rs1002571805	p.Trp157Ter	stop gained	-	NC_000001.11:g.45508837G>A	-
rs1315916426	p.Trp157Ser	missense variant	-	NC_000001.11:g.45508836G>C	gnomAD
RCV000669370	p.Trp157Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508837G>A	ClinVar
rs201312386	p.Phe158Leu	missense variant	-	NC_000001.11:g.45508838T>C	ESP,ExAC,TOPMed,gnomAD
RCV000664859	p.Phe158Leu	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508838T>C	ClinVar
rs1426887022	p.Phe158Ser	missense variant	-	NC_000001.11:g.45508839T>C	TOPMed
rs769378589	p.Ile160Val	missense variant	-	NC_000001.11:g.45508844A>G	ExAC,gnomAD
RCV000721969	p.Arg161Gln	missense variant	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	NC_000001.11:g.45508848G>A	ClinVar
RCV000081740	p.Arg161Gln	missense variant	-	NC_000001.11:g.45508848G>A	ClinVar
rs370596113	p.Arg161Ter	stop gained	-	NC_000001.11:g.45508847C>T	ESP,ExAC,TOPMed,gnomAD
rs370596113	p.Arg161Gly	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508847C>G	UniProt,dbSNP
VAR_024778	p.Arg161Gly	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508847C>G	UniProt
rs370596113	p.Arg161Gly	missense variant	-	NC_000001.11:g.45508847C>G	ESP,ExAC,TOPMed,gnomAD
RCV000624532	p.Arg161Gln	missense variant	Inborn genetic diseases	NC_000001.11:g.45508848G>A	ClinVar
rs121918243	p.Arg161Gln	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508848G>A	UniProt,dbSNP
VAR_024779	p.Arg161Gln	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508848G>A	UniProt
rs121918243	p.Arg161Gln	missense variant	-	NC_000001.11:g.45508848G>A	ESP,ExAC,TOPMed,gnomAD
RCV000001490	p.Arg161Gln	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508848G>A	ClinVar
RCV000340205	p.Arg161Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508847C>T	ClinVar
RCV000081739	p.Arg161Ter	nonsense	-	NC_000001.11:g.45508847C>T	ClinVar
rs1178984269	p.Gly162Trp	missense variant	-	NC_000001.11:g.45508850G>T	gnomAD
rs1417321919	p.Val164Leu	missense variant	-	NC_000001.11:g.45508856G>C	TOPMed
RCV000668801	p.Pro167Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508866del	ClinVar
RCV000672551	p.Pro167Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508863dup	ClinVar
rs942114005	p.Pro167Leu	missense variant	-	NC_000001.11:g.45508866C>T	TOPMed
rs1324791452	p.Gly168Glu	missense variant	-	NC_000001.11:g.45508869G>A	TOPMed
rs764448435	p.Gly168Arg	missense variant	-	NC_000001.11:g.45508868G>A	ExAC,gnomAD
rs1157052325	p.Ile169Val	missense variant	-	NC_000001.11:g.45508871A>G	gnomAD
rs1230233151	p.Glu170Asp	missense variant	-	NC_000001.11:g.45508876G>C	gnomAD
RCV000671954	p.Glu170Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508873_45508885del	ClinVar
rs1284743326	p.Val171Leu	missense variant	-	NC_000001.11:g.45508877G>T	TOPMed
rs754140669	p.Asp173Asn	missense variant	-	NC_000001.11:g.45508883G>A	ExAC,gnomAD
rs765367834	p.Pro175Leu	missense variant	-	NC_000001.11:g.45508890C>T	ExAC,TOPMed,gnomAD
rs761889099	p.Pro175Ser	missense variant	-	NC_000001.11:g.45508889C>T	ExAC,gnomAD
rs1334625392	p.Arg177Gly	missense variant	-	NC_000001.11:g.45508895A>G	TOPMed
rs1279586445	p.Lys178Asn	missense variant	-	NC_000001.11:g.45508900A>C	gnomAD
rs368225422	p.Pro179Arg	missense variant	-	NC_000001.11:g.45508902C>G	ESP
rs1392678827	p.His180Arg	missense variant	-	NC_000001.11:g.45508905A>G	TOPMed
rs758426429	p.Asp181Tyr	missense variant	-	NC_000001.11:g.45508907G>T	ExAC,TOPMed,gnomAD
rs758426429	p.Asp181Asn	missense variant	-	NC_000001.11:g.45508907G>A	ExAC,TOPMed,gnomAD
RCV000671439	p.Asp181Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508907_45508914del	ClinVar
rs372010149	p.Cys182Phe	missense variant	-	NC_000001.11:g.45508911G>T	ESP,ExAC,TOPMed,gnomAD
rs372010149	p.Cys182Ser	missense variant	-	NC_000001.11:g.45508911G>C	ESP,ExAC,TOPMed,gnomAD
rs372010149	p.Cys182Tyr	missense variant	-	NC_000001.11:g.45508911G>A	ESP,ExAC,TOPMed,gnomAD
RCV000331253	p.Cys182Tyr	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508911G>A	ClinVar
rs955468279	p.Cys182Arg	missense variant	-	NC_000001.11:g.45508910T>C	-
RCV000666281	p.Cys182Arg	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508910T>C	ClinVar
rs780926592	p.Val183Ala	missense variant	-	NC_000001.11:g.45508914T>C	ExAC,gnomAD
RCV000790832	p.Val183Ter	frameshift	-	NC_000001.11:g.45508911_45508912GT[1]	ClinVar
RCV000266579	p.Val183Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508911_45508912GT[1]	ClinVar
NCI-TCGA novel	p.Val183ThrPheSerTerUnk	frameshift	-	NC_000001.11:g.45508910_45508911TG>-	NCI-TCGA
rs1439438926	p.Pro184Arg	missense variant	-	NC_000001.11:g.45508917C>G	gnomAD
rs747860045	p.Pro184Ser	missense variant	-	NC_000001.11:g.45508916C>T	ExAC,gnomAD
rs747860045	p.Pro184Ala	missense variant	-	NC_000001.11:g.45508916C>G	ExAC,gnomAD
rs1205106855	p.Thr185Ala	missense variant	-	NC_000001.11:g.45508919A>G	gnomAD
rs201410976	p.Thr185Lys	missense variant	-	NC_000001.11:g.45508920C>A	1000Genomes,ExAC,gnomAD
rs201410976	p.Thr185Arg	missense variant	-	NC_000001.11:g.45508920C>G	1000Genomes,ExAC,gnomAD
rs1205106855	p.Thr185Pro	missense variant	-	NC_000001.11:g.45508919A>C	gnomAD
rs777345540	p.Arg186Lys	missense variant	-	NC_000001.11:g.45508923G>A	ExAC,gnomAD
rs1470069919	p.Ala187Thr	missense variant	-	NC_000001.11:g.45508925G>A	TOPMed
NCI-TCGA novel	p.Ala187Asp	missense variant	-	NC_000001.11:g.45508926C>A	NCI-TCGA
rs748747319	p.Asp188Asn	missense variant	-	NC_000001.11:g.45508928G>A	ExAC,gnomAD
rs761221416	p.Arg189His	missense variant	-	NC_000001.11:g.45508932G>A	ExAC,TOPMed
rs200895671	p.Arg189Cys	missense variant	-	NC_000001.11:g.45508931C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000668639	p.Arg189Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508931del	ClinVar
RCV000674997	p.Arg189Ser	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508931C>A	ClinVar
rs200895671	p.Arg189Ser	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508931C>A	UniProt,dbSNP
VAR_024780	p.Arg189Ser	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508931C>A	UniProt
rs200895671	p.Arg189Ser	missense variant	-	NC_000001.11:g.45508931C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000477781	p.Arg189His	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508932G>A	ClinVar
rs1173363224	p.Ile190Ser	missense variant	-	NC_000001.11:g.45508935T>G	TOPMed,gnomAD
RCV000672749	p.Ile190Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508933dup	ClinVar
rs777075012	p.Ala191Thr	missense variant	-	NC_000001.11:g.45508937G>A	ExAC,TOPMed,gnomAD
rs375442063	p.Ala191Val	missense variant	-	NC_000001.11:g.45508938C>T	ESP,ExAC,TOPMed,gnomAD
rs375442063	p.Ala191Gly	missense variant	-	NC_000001.11:g.45508938C>G	ESP,ExAC,TOPMed,gnomAD
rs777075012	p.Ala191Ser	missense variant	-	NC_000001.11:g.45508937G>T	ExAC,TOPMed,gnomAD
RCV000672361	p.Leu192Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508940del	ClinVar
rs1371224805	p.Leu193Phe	missense variant	-	NC_000001.11:g.45508943C>T	TOPMed,gnomAD
rs1233135084	p.Leu193Pro	missense variant	-	NC_000001.11:g.45508944T>C	gnomAD
rs751530925	p.Glu194Lys	missense variant	-	NC_000001.11:g.45508946G>A	ExAC,TOPMed,gnomAD
rs754862915	p.Gly195Ala	missense variant	-	NC_000001.11:g.45508950G>C	ExAC,TOPMed,gnomAD
rs1272181770	p.Asn197Ser	missense variant	-	NC_000001.11:g.45508956A>G	gnomAD
COSM910186	p.Asn197Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.45508956A>T	NCI-TCGA Cosmic
rs1453322509	p.Phe198Ser	missense variant	-	NC_000001.11:g.45508959T>C	TOPMed
rs1436017749	p.Phe198Leu	missense variant	-	NC_000001.11:g.45508958T>C	gnomAD
rs1053868671	p.His199Tyr	missense variant	-	NC_000001.11:g.45508961C>T	TOPMed,gnomAD
rs1399932916	p.Trp200Ter	stop gained	-	NC_000001.11:g.45508965G>A	TOPMed
rs780979789	p.Trp200Arg	missense variant	-	NC_000001.11:g.45508964T>C	ExAC,TOPMed,gnomAD
rs796051997	p.Trp200Ter	stop gained	-	NC_000001.11:g.45508966G>A	gnomAD
rs752368805	p.Arg201Cys	missense variant	-	NC_000001.11:g.45508967C>T	ExAC,TOPMed,gnomAD
rs200515707	p.Arg201His	missense variant	-	NC_000001.11:g.45508968G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs587776889	p.Trp203Ter	stop gained	-	NC_000001.11:g.45508975G>A	ExAC,TOPMed,gnomAD
RCV000756343	p.Trp203Ter	nonsense	-	NC_000001.11:g.45508975G>A	ClinVar
rs398124295	p.Trp203Ter	stop gained	-	NC_000001.11:g.45508974G>A	ExAC,gnomAD
RCV000023785	p.Trp203Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508975G>A	ClinVar
RCV000383499	p.Trp203Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508974G>A	ClinVar
RCV000790827	p.Trp203Ter	nonsense	-	NC_000001.11:g.45508974G>A	ClinVar
rs747527726	p.Tyr205Ter	stop gained	-	NC_000001.11:g.45508981C>A	ExAC,TOPMed,gnomAD
rs1383465849	p.Tyr205Ter	stop gained	-	NC_000001.11:g.45508980dup	TOPMed
RCV000674536	p.Tyr205Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508981C>A	ClinVar
RCV000267790	p.Tyr205Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508981C>G	ClinVar
rs747527726	p.Tyr205Ter	stop gained	-	NC_000001.11:g.45508981C>G	ExAC,TOPMed,gnomAD
RCV000723444	p.Tyr205Ter	nonsense	-	NC_000001.11:g.45508981C>G	ClinVar
RCV000674571	p.Arg206Pro	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508983G>C	ClinVar
rs538023671	p.Arg206Trp	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508982C>T	UniProt,dbSNP
VAR_024783	p.Arg206Trp	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508982C>T	UniProt
rs538023671	p.Arg206Trp	missense variant	-	NC_000001.11:g.45508982C>T	1000Genomes
rs371753672	p.Arg206Pro	missense variant	-	NC_000001.11:g.45508983G>C	ESP,ExAC,TOPMed,gnomAD
rs371753672	p.Arg206Pro	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508983G>C	UniProt,dbSNP
VAR_024782	p.Arg206Pro	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508983G>C	UniProt
rs371753672	p.Arg206Gln	missense variant	-	NC_000001.11:g.45508983G>A	ESP,ExAC,TOPMed,gnomAD
RCV000490478	p.Arg206Trp	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508982C>T	ClinVar
rs538023671	p.Arg206Gly	missense variant	-	NC_000001.11:g.45508982C>G	1000Genomes
rs867614301	p.Asp207His	missense variant	-	NC_000001.11:g.45508985G>C	TOPMed
RCV000668405	p.Asp207Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508985dup	ClinVar
NCI-TCGA novel	p.Asp207Gly	missense variant	-	NC_000001.11:g.45508986A>G	NCI-TCGA
rs1456124203	p.Ala208Pro	missense variant	-	NC_000001.11:g.45508988G>C	gnomAD
rs376653350	p.Val209Ala	missense variant	-	NC_000001.11:g.45508992T>C	ESP,ExAC,TOPMed,gnomAD
rs376653350	p.Val209Glu	missense variant	-	NC_000001.11:g.45508992T>A	ESP,ExAC,TOPMed,gnomAD
rs376653350	p.Val209Gly	missense variant	-	NC_000001.11:g.45508992T>G	ESP,ExAC,TOPMed,gnomAD
RCV000664669	p.Val209Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508990_45508991TG[1]	ClinVar
rs763196419	p.Pro211Leu	missense variant	-	NC_000001.11:g.45508998C>T	ExAC,gnomAD
rs192924272	p.Pro211Thr	missense variant	-	NC_000001.11:g.45508997C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs192924272	p.Pro211Ser	missense variant	-	NC_000001.11:g.45508997C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1235087664	p.Gln212Arg	missense variant	-	NC_000001.11:g.45509001A>G	gnomAD
rs759474531	p.Glu213Lys	missense variant	-	NC_000001.11:g.45509003G>A	ExAC,gnomAD
rs202189863	p.Arg214His	missense variant	-	NC_000001.11:g.45509007G>A	ExAC,TOPMed,gnomAD
rs1209388287	p.Arg214Cys	missense variant	-	NC_000001.11:g.45509006C>T	TOPMed,gnomAD
RCV000588709	p.Arg214His	missense variant	-	NC_000001.11:g.45509007G>A	ClinVar
rs755843695	p.Tyr215His	missense variant	-	NC_000001.11:g.45509009T>C	ExAC
rs763851000	p.Ser216Pro	missense variant	-	NC_000001.11:g.45509012T>C	ExAC,gnomAD
RCV000732513	p.Glu217Gly	missense variant	-	NC_000001.11:g.45509016A>G	ClinVar
rs199641732	p.Glu217Val	missense variant	-	NC_000001.11:g.45509016A>T	ESP,ExAC,TOPMed,gnomAD
rs483352740	p.Glu217Ter	stop gained	-	NC_000001.11:g.45509015G>T	-
rs199641732	p.Glu217Gly	missense variant	-	NC_000001.11:g.45509016A>G	ESP,ExAC,TOPMed,gnomAD
RCV000555947	p.Glu217Val	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509016A>T	ClinVar
RCV000087225	p.Glu217Ter	nonsense	-	NC_000001.11:g.45509015G>T	ClinVar
rs778566338	p.Lys220Thr	missense variant	-	NC_000001.11:g.45509025A>C	ExAC,gnomAD
rs200023742	p.Lys220Glu	missense variant	-	NC_000001.11:g.45509024A>G	ESP,ExAC,TOPMed,gnomAD
rs201266016	p.Tyr222Ter	stop gained	-	NC_000001.11:g.45509032C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000590695	p.Tyr222Ter	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509032C>A	ClinVar
rs1317317356	p.Phe223Leu	missense variant	-	NC_000001.11:g.45509033T>C	gnomAD
rs781527733	p.Pro226Ala	missense variant	-	NC_000001.11:g.45509042C>G	ExAC,gnomAD
RCV000372673	p.Ala228Val	missense variant	-	NC_000001.11:g.45509049C>T	ClinVar
rs1293828047	p.Ala228Thr	missense variant	-	NC_000001.11:g.45509048G>A	gnomAD
rs201269886	p.Ala228Val	missense variant	-	NC_000001.11:g.45509049C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs369621922	p.Gln229His	missense variant	-	NC_000001.11:g.45509053A>T	ESP,ExAC,TOPMed,gnomAD
rs770084300	p.Gln229Ter	stop gained	-	NC_000001.11:g.45509051C>T	ExAC,gnomAD
rs771074986	p.Arg230Gln	missense variant	-	NC_000001.11:g.45509055G>A	ExAC,TOPMed,gnomAD
rs771074986	p.Arg230Leu	missense variant	-	NC_000001.11:g.45509055G>T	ExAC,TOPMed,gnomAD
rs201183360	p.Arg230Ter	stop gained	-	NC_000001.11:g.45509054C>T	ExAC,TOPMed,gnomAD
RCV000579162	p.Arg230Ter	nonsense	-	NC_000001.11:g.45509054C>T	ClinVar
rs775262447	p.Leu233Val	missense variant	-	NC_000001.11:g.45509063C>G	ExAC,gnomAD
rs763806701	p.Leu234Ser	missense variant	-	NC_000001.11:g.45509067T>C	ExAC,gnomAD
RCV000665427	p.Leu234Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509067del	ClinVar
rs369990884	p.Gly235Cys	missense variant	-	NC_000001.11:g.45509069G>T	ESP,ExAC,gnomAD
rs1365060911	p.Leu236Ser	missense variant	-	NC_000001.11:g.45509073T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala237Val	missense variant	-	NC_000001.11:g.45509076C>T	NCI-TCGA
rs1157602192	p.Gln238His	missense variant	-	NC_000001.11:g.45509080G>C	gnomAD
rs757033378	p.Gln238Ter	stop gained	-	NC_000001.11:g.45509078C>T	ExAC,gnomAD
rs1302848923	p.Pro239Leu	missense variant	-	NC_000001.11:g.45509082C>T	TOPMed
NCI-TCGA novel	p.Ser240Ter	stop gained	-	NC_000001.11:g.45509085C>G	NCI-TCGA
rs1053431976	p.Glu241Ter	stop gained	-	NC_000001.11:g.45509087G>T	TOPMed
rs1374705240	p.Lys242Gln	missense variant	-	NC_000001.11:g.45509090A>C	TOPMed,gnomAD
RCV000665918	p.Pro243Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509094del	ClinVar
rs757948554	p.Pro243Ala	missense variant	-	NC_000001.11:g.45509093C>G	ExAC,gnomAD
rs757948554	p.Pro243Ser	missense variant	-	NC_000001.11:g.45509093C>T	ExAC,gnomAD
rs779575471	p.Ser245Pro	missense variant	-	NC_000001.11:g.45509099T>C	ExAC,TOPMed,gnomAD
rs564280688	p.Pro248Leu	missense variant	-	NC_000001.11:g.45509109C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1199712788	p.Pro248Ser	missense variant	-	NC_000001.11:g.45509108C>T	TOPMed
rs564280688	p.Pro248Arg	missense variant	-	NC_000001.11:g.45509109C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000672531	p.Asp249Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509111dup	ClinVar
rs1236859793	p.Pro251Leu	missense variant	-	NC_000001.11:g.45509118C>T	TOPMed,gnomAD
rs1236859793	p.Pro251His	missense variant	-	NC_000001.11:g.45509118C>A	TOPMed,gnomAD
rs749648988	p.Phe252Leu	missense variant	-	NC_000001.11:g.45509120T>C	ExAC,gnomAD
rs375804663	p.Pro255Leu	missense variant	-	NC_000001.11:g.45509130C>T	ESP,ExAC,TOPMed,gnomAD
rs533256855	p.Pro255Ala	missense variant	-	NC_000001.11:g.45509129C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs533256855	p.Pro255Thr	missense variant	-	NC_000001.11:g.45509129C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs533256855	p.Pro255Ser	missense variant	-	NC_000001.11:g.45509129C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs187494806	p.Ala256Thr	missense variant	-	NC_000001.11:g.45509132G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs187494806	p.Ala256Pro	missense variant	-	NC_000001.11:g.45509132G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1437903874	p.Pro257Ser	missense variant	-	NC_000001.11:g.45509135C>T	TOPMed,gnomAD
rs201601241	p.Pro257Leu	missense variant	-	NC_000001.11:g.45509136C>T	ESP,ExAC,TOPMed,gnomAD
rs1163128163	p.Lys258Arg	missense variant	-	NC_000001.11:g.45509139A>G	gnomAD
RCV000667683	p.Lys258Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509137dup	ClinVar
COSM1343054	p.Pro260Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.45509144C>T	NCI-TCGA Cosmic
rs1405816779	p.Pro263Ser	missense variant	-	NC_000001.11:g.45509153C>T	TOPMed
rs977290598	p.Ser264Asn	missense variant	-	NC_000001.11:g.45509157G>A	TOPMed
rs1176659824	p.Ser264Arg	missense variant	-	NC_000001.11:g.45509156A>C	TOPMed
rs765022621	p.Ala266Ser	missense variant	-	NC_000001.11:g.45509162G>T	ExAC
RCV000424361	p.Arg267Trp	missense variant	-	NC_000001.11:g.45509165C>T	ClinVar
RCV000673433	p.Arg267Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509165dup	ClinVar
rs765822392	p.Arg267Gln	missense variant	-	NC_000001.11:g.45509166G>A	ExAC,TOPMed,gnomAD
rs34258482	p.Arg267Trp	missense variant	-	NC_000001.11:g.45509165C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34258482	p.Arg267Gly	missense variant	-	NC_000001.11:g.45509165C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000670026	p.Arg267Gln	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509166G>A	ClinVar
rs941778714	p.Ser268Arg	missense variant	-	NC_000001.11:g.45509170C>A	gnomAD
rs756647292	p.Leu270Val	missense variant	-	NC_000001.11:g.45509174C>G	ExAC,gnomAD
rs35219601	p.Ser271Gly	missense variant	-	NC_000001.11:g.45509177A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35219601	p.Ser271Gly	missense variant	-	NC_000001.11:g.45509177A>G	UniProt,dbSNP
VAR_038805	p.Ser271Gly	missense variant	-	NC_000001.11:g.45509177A>G	UniProt
RCV000287880	p.Ser271Gly	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45509177A>G	ClinVar
RCV000245390	p.Ser271Gly	missense variant	-	NC_000001.11:g.45509177A>G	ClinVar
rs910738222	p.Pro272Ser	missense variant	-	NC_000001.11:g.45509180C>T	TOPMed
rs1231620127	p.Arg273Ser	missense variant	-	NC_000001.11:g.45509185G>C	TOPMed,gnomAD
rs1460672740	p.Arg273Lys	missense variant	-	NC_000001.11:g.45509184G>A	TOPMed
rs569132013	p.Val274Ala	missense variant	-	NC_000001.11:g.45509187T>C	1000Genomes,ExAC,gnomAD
rs372444141	p.Val274Ile	missense variant	-	NC_000001.11:g.45509186G>A	ESP,ExAC,gnomAD
rs1235862535	p.Ser275Leu	missense variant	-	NC_000001.11:g.45509190C>T	gnomAD
rs538081709	p.Pro276Leu	missense variant	-	NC_000001.11:g.45509193C>T	1000Genomes,ExAC,gnomAD
rs747095198	p.Pro277Ser	missense variant	-	NC_000001.11:g.45509195C>T	ExAC,gnomAD
RCV000671373	p.Pro280Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509205del	ClinVar
RCV000670097	p.Gly281Ter	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509206del	ClinVar
rs1553163019	p.Pro282Thr	missense variant	-	NC_000001.11:g.45509210C>A	-
RCV000587167	p.Pro282Thr	missense variant	-	NC_000001.11:g.45509210C>A	ClinVar
rs1172284374	p.Pro282Arg	missense variant	-	NC_000001.11:g.45509211C>G	TOPMed,gnomAD
RCV000729719	p.Ter283Ser	stop lost	-	NC_000001.11:g.45509214G>C	ClinVar
rs201025783	p.Ter283Ser	stop lost	-	NC_000001.11:g.45509214G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768524449	p.Ter283Arg	stop lost	-	NC_000001.11:g.45509213T>A	ExAC
rs1553163024	p.Ter283Unk	stop lost	-	NC_000001.11:g.45509214del	-
RCV000666710	p.Ter283Tyr	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509214del	ClinVar
RCV000665683	p.Ter283Trp	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509215A>G	ClinVar
RCV000672192	p.Ter283Cys	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509215del	ClinVar
RCV000670268	p.Ter283Phe	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509214_45509217del	ClinVar
RCV000178303	p.Ter283Leu	stop lost	-	NC_000001.11:g.45509214G>T	ClinVar
rs1553163027	p.Ter283Unk	stop lost	-	NC_000001.11:g.45509215del	-
rs201025783	p.Ter283Leu	stop lost	-	NC_000001.11:g.45509214G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769732556	p.Ter283Trp	stop lost	-	NC_000001.11:g.45509215A>G	ExAC,TOPMed,gnomAD
RCV000669635	p.Ter283Ser	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509214G>C	ClinVar
RCV000780428	p.Ter283Ser	stop lost	-	NC_000001.11:g.45509214G>C	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002888	Anemia, Megaloblastic	disease	BEFREE;HPO
C0003123	Anorexia	disease	HPO
C0004138	Ataxias, Hereditary	group	GENOMICS_ENGLAND
C0009676	Confusion	phenotype	HPO
C0014544	Epilepsy	disease	HPO
C0015371	Extrapyramidal Disorders	group	HPO
C0015672	Fatigue	phenotype	HPO
C0018965	Hematuria	phenotype	HPO
C0019061	Hemolytic-Uremic Syndrome	disease	HPO
C0019880	Homocystinuria	disease	BEFREE;HPO
C0020255	Hydrocephalus	disease	GENOMICS_ENGLAND;HPO
C0022658	Kidney Diseases	group	HPO
C0023380	Lethargy	phenotype	HPO
C0025362	Mental Retardation	disease	HPO
C0028738	Nystagmus	disease	HPO
C0030232	Pallor	phenotype	HPO
C0033687	Proteinuria	phenotype	HPO
C0035078	Kidney Failure	disease	HPO
C0035309	Retinal Diseases	group	HPO
C0035334	Retinitis Pigmentosa	disease	HPO
C0036572	Seizures	phenotype	HPO
C0040034	Thrombocytopenia	phenotype	HPO
C0040038	Thromboembolism	phenotype	HPO
C0040822	Tremor	phenotype	HPO
C0042798	Low Vision	disease	HPO
C0042847	Vitamin B 12 Deficiency	disease	BEFREE
C0085307	Embolism and Thrombosis	disease	HPO
C0152421	Macrotia	disease	HPO
C0220981	Metabolic acidosis	phenotype	HPO
C0220993	Cystathioninuria	phenotype	HPO
C0220994	Hyperammonemia	phenotype	GENOMICS_ENGLAND
C0231246	Failure to gain weight	phenotype	HPO
C0234133	Extrapyramidal sign	phenotype	HPO
C0234632	Reduced visual acuity	phenotype	HPO
C0235946	Cerebral atrophy	disease	HPO
C0238801	Bone marrow megaloblastic (finding)	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239676	High forehead	phenotype	HPO
C0268583	Methylmalonic acidemia	phenotype	BEFREE;HPO
C0268618	Cystathioninemia	disease	HPO
C0376634	Craniofacial Abnormalities	group	BEFREE
C0392386	Decreased platelet count	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0497327	Dementia	disease	HPO
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0554972	Large auricle	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C0853697	Neutrophil count decreased	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1142533	Smooth philtrum	phenotype	HPO
C1272348	Disorder of vitamin B12	disease	BEFREE
C1408258	Kidney damage	phenotype	HPO
C1565489	Renal Insufficiency	disease	HPO
C1737329	Dysmorphism	disease	BEFREE
C1836047	Long face	phenotype	HPO
C1839604	Renal failure in adulthood	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1848555	Hypomethioninemia	phenotype	HPO
C1848556	Decreased adenosylcobalamin	phenotype	HPO
C1848561	Methylmalonic acidemia with homocystinuria	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C1848579	Decreased methylmalonyl-CoA mutase activity	phenotype	HPO
C1848580	Decreased methionine synthase activity	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1855119	Methylmalonic aciduria	disease	BEFREE;HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C3665347	Visual Impairment	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806347	Hyperhomocystinemia	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021736	Decreased methylcobalamin	phenotype	HPO
C4476526	High urine occult blood	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0016491	oxidoreductase activity	IDA
GO:0016491	oxidoreductase activity	TAS
GO:0031419	cobalamin binding	IEA
GO:0032451	demethylase activity	IDA
GO:0032451	demethylase activity	IBA
GO:0033787	cyanocobalamin reductase (cyanide-eliminating) activity	IDA
GO:0033787	cyanocobalamin reductase (cyanide-eliminating) activity	IBA
GO:0033787	cyanocobalamin reductase (cyanide-eliminating) activity	TAS
GO:0042803	protein homodimerization activity	IPI
GO:0043295	glutathione binding	IDA
GO:0071949	FAD binding	IDA
GO:0071949	FAD binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006749	glutathione metabolic process	IDA
GO:0009235	cobalamin metabolic process	IDA
GO:0009235	cobalamin metabolic process	IMP
GO:0009235	cobalamin metabolic process	TAS
GO:0009236	cobalamin biosynthetic process	IEA
GO:0009236	cobalamin biosynthetic process	IDA
GO:0009236	cobalamin biosynthetic process	IBA
GO:0055114	oxidation-reduction process	IDA
GO:0070988	demethylation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IBA
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	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-3296469	Defects in cobalamin (B12) metabolism	TAS
R-HSA-3296482	Defects in vitamin and cofactor metabolism	TAS
R-HSA-3359473	Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD	TAS
R-HSA-3359474	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	TAS
R-HSA-5668914	Diseases of metabolism	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of MMACHC mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of MMACHC mRNA	30723492
C496492	abrine	abrine results in decreased expression of MMACHC mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of MMACHC mRNA	21420995; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of MMACHC mRNA	17562736
D020106	Acrylamide	Acrylamide results in increased expression of MMACHC mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of MMACHC mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MMACHC gene	27153756
D000661	Amphetamine	Amphetamine results in decreased expression of MMACHC mRNA	30779732
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MMACHC mRNA	21632981
C006780	bisphenol A	bisphenol A results in decreased expression of MMACHC mRNA	30816183
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of MMACHC mRNA	20883709
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MMACHC mRNA	24386269
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of MMACHC mRNA	20971185
D016572	Cyclosporine	Cyclosporine results in decreased expression of MMACHC mRNA	20106945; 25562108;
C089595	cylindrospermopsin	cylindrospermopsin results in increased expression of MMACHC mRNA	24921660
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MMACHC mRNA	21266533
C000944	dicrotophos	dicrotophos results in increased expression of MMACHC mRNA	28302478
D004317	Doxorubicin	Doxorubicin results in decreased expression of MMACHC mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of MMACHC mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MMACHC mRNA	22079256
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MMACHC mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of MMACHC mRNA	23649840
C069837	fullerene C60	fullerene C60 results in decreased expression of MMACHC mRNA	19167457
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MMACHC mRNA	29432896
D006879	Hydroxocobalamin	Hydroxocobalamin binds to MMACHC protein	19700356
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MMACHC mRNA	25613284
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MMACHC mRNA	29432896
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MMACHC mRNA	21889194; 24796395; 25307878;
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MMACHC mRNA	25982114
D008345	Manganese	Manganese results in increased expression of MMACHC mRNA	18284614
D008701	Methapyrilene	Methapyrilene results in decreased expression of MMACHC mRNA	30467583
D008727	Methotrexate	Methotrexate results in increased expression of MMACHC mRNA	24449571
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MMACHC mRNA	23103053
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of MMACHC mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of MMACHC mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of MMACHC mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MMACHC mRNA	25554681
C028007	nickel monoxide	nickel monoxide affects the expression of MMACHC mRNA	19167457
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of MMACHC mRNA	20971185
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MMACHC mRNA	29432896
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of MMACHC mRNA	24642059
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MMACHC mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of MMACHC mRNA	23811191
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MMACHC mRNA	29432896
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MMACHC mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of MMACHC mRNA	22079256
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of MMACHC mRNA	25351596
C017947	sodium arsenite	sodium arsenite results in decreased expression of MMACHC mRNA	20883709
D000077210	Sunitinib	Sunitinib results in decreased expression of MMACHC mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MMACHC mRNA	24680724
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MMACHC mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of MMACHC mRNA	22363418
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of MMACHC mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of MMACHC mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of MMACHC mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in decreased methylation of MMACHC gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of MMACHC mRNA	17292431
C025643	vinclozolin	vinclozolin affects the expression of MMACHC mRNA	23034163
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of MMACHC mRNA	26682919
D014805	Vitamin B 12	MMACHC protein mutant form results in decreased metabolism of Vitamin B 12	19700356
D014805	Vitamin B 12	MMACHC protein results in increased metabolism of Vitamin B 12	19700356
D014805	Vitamin B 12	Vitamin B 12 analog binds to MMACHC protein	19700356
D014805	Vitamin B 12	Vitamin B 12 binds to MMACHC protein	19700356

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0846	Cobalamin
KW-0170	Cobalt
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0274	FAD
KW-0285	Flavoprotein
KW-0288	FMN
KW-0521	NADP
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0808	Transferase

Interpro

InterPro ID	InterPro Term
IPR032037	MMACHC

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF16690	MMACHC