Reactome: A Curated Pathway Database

MUT N219Y

Stable Identifier
R-HSA-3323146
Type
Protein
Species
Homo sapiens
Compartment
Synonyms
methylmalonyl-CoA mutase, apoprotein, MUTA_HUMAN, Methylmalonyl-CoA mutase, mitochondrial precursor , MCM
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MUT
Chain
transit peptide:1-32, chain:33-750
Reference Genes
Reference Transcript
Other Identifiers
 0006380484  11723652_a_at  11723653_at  11758888_at  17019831
 202959_at  202960_s_at  2XIJ  2XIQ  3BIC
 40105_at  4594  62961_at  8126860  A0A024RD82
 A_23_P214273  A_23_P400235  CCDS4924  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
 M65131_rna1_at  MIM:609058  MUT  MUT-001  NM_000255
 NP_000246  PF01642  PF02310  PH_hs_0009350  uc003ozg.5
 UPI000013DA28  XM_005249143  XP_005249200
Participant Of
Other forms of this molecule
Modified Residues
Name Coordinate Modification PsiMod
L-asparagine 219 replaced with L-tyrosine 219
Disease
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]
Cross References
RefSeq
UCSC human
GeneCards
DOCK Blaster
PRO
HMDB_protein
Protein Data Bank