MUT G215S [mitochondrial matrix]

Stable Identifier
R-HSA-3323175
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
methylmalonyl-CoA mutase, apoprotein, MUTA_HUMAN, Methylmalonyl-CoA mutase, mitochondrial precursor , MCM
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P22033 MMUT
Gene Names
MMUT, MUT
Chain
transit peptide:1-32, chain:33-750
Reference Genes
BioGPS Gene:4594 MMUT
COSMIC (genes):MMUT MMUT
CTD Gene:4594 MMUT
dbSNP Gene:4594 MMUT
ENSEMBL:ENSG00000146085 MUT
HGNC:7526 MMUT
KEGG Gene (Homo sapiens):4594 MMUT
Monarch:4594 MMUT
NCBI Gene:4594 MMUT
OMIM:609058 MMUT
UCSC:P22033 MMUT
Reference Transcript
Other Identifiers
0006380484
11723652_a_at
11723653_at
11758888_at
17019831
202959_at
202960_s_at
2956439
2956440
2956441
2956442
2956443
2956444
2956445
2956447
2956449
2956451
2956452
2956453
2956454
2956455
2956457
2956458
2956459
2956460
2956461
2956462
2956463
2956465
2956466
2956467
40105_at
4594
62961_at
8126860
A_23_P214273
A_23_P400235
GE58043
GO:0003674
GO:0003824
GO:0003924
GO:0004494
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005739
GO:0005759
GO:0006520
GO:0006629
GO:0006790
GO:0008150
GO:0009056
GO:0009235
GO:0009791
GO:0016853
GO:0016866
GO:0019626
GO:0031419
GO:0042802
GO:0042803
GO:0043167
GO:0043226
GO:0043547
GO:0044281
GO:0046872
GO:0048856
GO:0050667
GO:0072341
HMNXSV003042461
Hs.155212.0.A2_3p_at
ILMN_1785113
M65131_rna1_at
PH_hs_0009350
TC06001782.hg
g4557766_3p_a_at
Participates
as a member of
Other forms of this molecule
MUT [mitochondrial matrix]
MUT R93H [mitochondrial matrix]
MUT W105R [mitochondrial matrix]
MUT G623R [mitochondrial matrix]
MUT R108C [mitochondrial matrix]
MUT N219Y [mitochondrial matrix]
MUT Q17* [mitochondrial matrix]
MUT G703R [mitochondrial matrix]
MUT A378E [mitochondrial matrix]
Modified Residues
Name
glycine 215 replaced with L-serine
Coordinate
215
PsiMod
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
methylmalonic acidemia DOID: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
OpenTargets
HPA
GeneCards
Ensembl
PRO
Orphanet
PDB
HMDB Protein
Interactors (3)
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