Reactome: A Curated Pathway Database

MUT G215S (R-HSA-3323175)

Species Homo sapiens

Additional Information
External reference name MUT
External reference id P22033
Synonyms methylmalonyl-CoA mutase, apoprotein, MUTA_HUMAN, Methylmalonyl-CoA mutase, mitochondrial precursor
Compartment mitochondrial matrix
Other Identifiers 0006380484, 11723652_a_at, 11723653_at, 11758888_at, 202959_at, 202960_s_at, 2XIJ, 2XIQ, 3BIC, 40105_at, 4594, 62961_at, A0A024RD82, A_23_P214273, A_23_P400235, AAA59569, AAA99226, AAH16282, AAP36102, AK292568, AL590668, BAF85257, BC016282, BT007434, CAI14311, CCDS4924, CH471081, EAX04329, EAX04330, ENSG00000146085, ENSP00000274813, ENST00000274813, EntrezGene:4594, g4557766_3p_a_at, GE58043, HGNC:7526, HPA035971, HPA035972, Hs.155212.0.A2_3p_at, Hs.485527, ILMN_1785113, IPR006098, IPR006099, IPR006158, IPR006159, IPR016176, M37499, M37500, M37501, M37503, M37504, M37505, M37506, M37507, M37508, M37509, M37510, M65131, M65131_rna1_at, MIM:251000, MIM:609058, MUT, MUT-001, NM_000255, NP_000246, OTTHUMP00000016578, PF01642, PF02310, PH_hs_0009350, REACT_111217, REACT_11193, REACT_11238, REACT_116125, REACT_1473, REACT_163862, REACT_169120, REACT_169132, REACT_169149, REACT_169169, REACT_169178, REACT_169238, REACT_169256, REACT_169280, REACT_169312, REACT_169313, REACT_169316, REACT_169318, REACT_169363, REACT_169385, REACT_169403, REACT_169415, REACT_169429, REACT_169439, REACT_22258, REACT_22279, REACT_993, uc003ozg.4, UPI000013DA28, XM_005249143, XP_005249200
Secondary Identifiers MUTA_HUMAN, A8K953, Q5SYZ3, Q96B11, Q9UD64
Gene Names MUT
Chain transit peptide:1-32, chain:33-750
This entry is a component of:
hasMember
Reference Genes
Database Identifier
dbSNP Gene 4594
CTD Gene 4594
BioGPS Gene 4594
NCBI Gene 4594
ENSEMBL ENSG00000146085
KEGG Gene 4594
Orphanet 16489
OMIM 251000
Reference Transcripts
Database Identifier
RefSeq NM_000255
Cross References
Database Identifier
RefSeq NP_000246
HMDB_protein HMDBP00257
PRO P22033
GeneCards P22033
UCSC human P22033
Diseases
Name Identifier Synonyms
methylmalonic acidemia 14749 [METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A]
ModifiedResidues
Name Coordinate Modification PsiMod Name PsiMod Identifier PsiMod Definition
glycine 215 replaced with L-serine 215 glycine removal 01638 A protein modification that effectively removes or replaces an glycine.