MMAB R191W [mitochondrial matrix]

Stable Identifier
R-HSA-3322112
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Cob, MMAB_HUMAN, MMAB
MMAB R191W [mitochondrial matrix] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MMAB
Chain
transit peptide:1-32, chain:33-250
Reference Transcript
Other Identifiers
11720535_a_at
11720536_at
11720537_at
11758620_s_at
16769924
225826_PM_at
225826_at
238975_PM_at
238975_at
242082_PM_at
242082_at
326625
3470826
3470828
3470830
3470832
3470833
3470834
3470840
3470842
3470845
3470847
3470851
3470855
3470856
3470858
3470859
57556_at
7966213
84592_at
A_23_P2537
A_24_P364381
A_24_P56221
A_33_P3367201
GE87173
GO:0000166
GO:0003824
GO:0005515
GO:0005524
GO:0005739
GO:0005759
GO:0006766
GO:0008817
GO:0009235
GO:0016740
GO:0016765
GO:0031419
GO:0043226
HMNXSV003050287
Hs.12106.0.S1_3p_at
Hs.170470.0.A1_3p_at
Hs.271865.0.A1_3p_at
ILMN_1689156
ILMN_1872276
PH_hs_0001137
TC12001952.hg
TC12003078.hg
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 191 replaced with L-tryptophan
Coordinate
191
PsiMod
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
A protein modification that effectively removes or replaces an L-arginine.
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
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Cite Us!