MMAB R186W

Stable Identifier
R-HSA-3322128
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Cob, MMAB_HUMAN, MMAB
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MMAB
Chain
transit peptide:1-32, chain:33-250
Reference Transcript
Other Identifiers
0001740377
00860+2.5.1.17
11720535_a_at
11720536_at
11720537_at
11758620_s_at
16769924
225826_at
238975_at
242082_at
2IDX
326625
3470826
3470828
3470830
3470832
3470833
3470834
3470840
3470842
3470845
3470847
3470851
3470855
3470856
3470858
3470859
39017
57556_at
7966213
84592_at
A0A087X114
A_23_P2537
A_24_P364381
A_24_P56221
A_33_P3367201
AAH05054
AAH11831
AAN85091
ACS13749
AF550396
AF550397
AF550398
AF550399
AF550400
AF550401
AF550402
AF550403
AF550404
BC005054
BC011831
CCDS9131
ENSG00000139428
ENSP00000445920
ENST00000545712
EntrezGene:326625
F5H079
F5H0C1
F5H4Z7
FJ515859
GE87173
GO:0000166
GO:0003674
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005759
GO:0008150
GO:0008817
GO:0009058
GO:0009235
GO:0009236
GO:0016740
GO:0016765
GO:0031419
GO:0034641
GO:0043167
GO:0043226
GO:0044281
GO:0051186
HGNC:19331
HPA039017
Hs.12106.0.S1_3p_at
Hs.170470.0.A1_3p_at
Hs.271865.0.A1_3p_at
ILMN_1689156
ILMN_1713055
ILMN_1872276
IPR016030
IPR029499
IPR036451
MIM:251110
MIM:607568
MMAB
MMAB-210
NM_052845
NP_443077
PF01923
PH_hs_0001137
S4R3P5
S4R3Z1
TC12001952.hg
TC12003078.hg
uc001tou.4
UPI0000073CBF
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 186 replaced with L-tryptophan
Coordinate
186
PsiMod HEY
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
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
PDB
HMDB Protein