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Results for the Protein: Q9UHK6
313104070

AMACR_HUMAN RecName: Full=Alpha-methylacyl-CoA racemase; AltName: Full=2-methylacyl-CoA racemase

Known Diseases associated with this Protein:
  ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INCLUDED
  CONGENITAL BILE ACID SYNTHESIS DEFECT 4 (CBAS4)
4
10
2
4
8
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Default View:

CaiB - COG1804
CoA_transf_3 - pfam02515


Swiss-Prot Protein: Q9UHK6
Identical to: NP_055139
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CaiBCOG18041.6e-1091373
CoA_transf_3pfam025152.6e-6453233

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs16892150 Polymorphismp.ARG118GLNN/A
Swiss-ProtVAR_055618Polymorphismp.GLN239HISN/A
Swiss-ProtVAR_010664Polymorphismp.GLU277LYSN/A
Swiss-ProtVAR_010662Polymorphismp.GLY175ASPN/A
Swiss-ProtVAR_010665Diseasep.LEU107PROCongenital bile acid synthesis defect 4 (CBAS4)
dbSNPrs2287939 Polymorphismp.LEU201SERN/A
Swiss-ProtVAR_055619Polymorphismp.MET261ILEN/A
Swiss-ProtVAR_055620Polymorphismp.MET261THRN/A
dbSNPrs1055202 Polymorphismp.PRO327LEUN/A
Swiss-ProtVAR_055617Polymorphismp.PRO238SERN/A
Swiss-ProtVAR_010661Diseasep.SER52PROCongenital bile acid synthesis defect 4 (CBAS4)
dbSNPrs3195676 Polymorphismp.VAL9METN/A
OMIM604489.0002 Diseasep.LEU107PROBILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
OMIM604489.0001 Diseasep.SER52PROALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY||BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INCLUDED



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