Reactome: A Curated Pathway Database

MUT R108C (R-HSA-3323139) [Homo sapiens]

Reference Gene Product
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:609058
 MUT  MUT-001  NM_000255  NP_000246  OTTHUMP00000016578
 PF01642  PF02310  PH_hs_0009350  R-HSA-1430728  R-HSA-1643685
 R-HSA-196741  R-HSA-196849  R-HSA-196854  R-HSA-3296469  R-HSA-3296482
 R-HSA-3359475  R-HSA-3359478  R-HSA-535734  R-HSA-556833  R-HSA-5668914
 R-HSA-71032  R-HSA-77289  uc003ozg.5  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 MUT
Orphanet 16489
Reference Transcripts
Database Identifier
RefSeq NM_000255
Cross References
Database Identifier
RefSeq NP_000246
DOCK Blaster 2XIJ, 2XIQ, 3BIC
HMDB_protein HMDBP00257
PRO P22033
GeneCards P22033
UCSC human P22033
Protein Data Bank 2XIJ, 2XIQ, 3BIC
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
L-arginine 108 replaced with L-cysteine 108 L-arginine removal 01632 A protein modification that effectively removes or replaces an L-arginine.