MUT G215S

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 MUT
Gene Names
MUT
Chain
transit peptide:1-32, chain:33-750
Reference Genes
BioGPS Gene:4594 MUT
COSMIC (genes):MUT MUT
CTD Gene:4594 MUT
dbSNP Gene:4594 MUT
ENSEMBL:ENSG00000146085 MUT
ENSEMBL:ENSG00000146085 MUT
HGNC:7526 MUT
KEGG Gene (Homo sapiens):hsa:4594 MUT
Monarch:4594 MUT
NCBI Gene:4594 MUT
OMIM:609058 MUT
UCSC:P22033 MUT
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
2XIJ
2XIQ
35971
35972
3BIC
40105_at
4594
62961_at
8126860
A0A024RD82
A_23_P214273
A_23_P400235
AAA59569
AAA99226
AAH16282
AAP36102
AK292568
AL590668
ALQ33659
BAF85257
BC016282
BT007434
CCDS4924
CH471081
EAX04329
EAX04330
ENSG00000146085
ENSP00000274813
ENST00000274813
EntrezGene:4594
g4557766_3p_a_at
GE58043
GO:0003674
GO:0003824
GO:0003924
GO:0004494
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005759
GO:0006520
GO:0006790
GO:0008150
GO:0008152
GO:0009235
GO:0009791
GO:0016853
GO:0016866
GO:0031419
GO:0042802
GO:0042803
GO:0043167
GO:0043226
GO:0043547
GO:0044281
GO:0046872
GO:0048856
GO:0050667
GO:0051186
GO:0072341
HGNC:7526
HPA035971
HPA035972
Hs.155212.0.A2_3p_at
ILMN_1785113
IPR006098
IPR006099
IPR006158
IPR006159
IPR016176
IPR036724
KU178201
M37499
M37500
M37501
M37503
M37504
M37505
M37506
M37507
M37508
M37509
M37510
M65131
M65131_rna1_at
MIM:251000
MIM:609058
MUT
MUT-201
NM_000255
NP_000246
PF01642
PF02310
PH_hs_0009350
TC06001782.hg
uc003ozg.5
UPI000013DA28
XM_005249143
XP_005249200
Participant Of
hasMember
Other forms of this molecule
MUT A378E [mitochondrial matrix]
MUT G703R [mitochondrial matrix]
MUT Q17* [mitochondrial matrix]
MUT N219Y [mitochondrial matrix]
MUT R108C [mitochondrial matrix]
MUT G623R [mitochondrial matrix]
MUT W105R [mitochondrial matrix]
MUT R93H [mitochondrial matrix]
MUT [mitochondrial matrix]
Modified Residues
Name
glycine 215 replaced with L-serine
Coordinate
215
PsiMod HEY
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 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
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
PDB