Results for the protein: NP

Results for the Protein: NP_001161067

266456254

23600

AMACR

NCBI

alpha-methylacyl-CoA racemase isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INCLUDED

2

8

2

8

0

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Default View: CaiB - COG1804 CoA_transf_3 - pfam02515	RefSeq Protein: NP_001161067 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CoA_transf_3	pfam02515	2.6e-64	53	233

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16892150	Polymorphism	p.ARG118GLN	N/A
dbSNP	rs34677	Polymorphism	p.GLN239HIS	N/A
dbSNP	rs2278008	Polymorphism	p.GLU277LYS	N/A
dbSNP	rs10941112	Polymorphism	p.GLY175ASP	N/A
dbSNP	rs2287939	Polymorphism	p.LEU201SER	N/A
dbSNP	rs1055202	Polymorphism	p.PRO327LEU	N/A
dbSNP	rs9282594	Polymorphism	p.PRO238SER	N/A
dbSNP	rs3195676	Polymorphism	p.VAL9MET	N/A
OMIM	604489.0002	Disease	p.LEU107PRO	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
OMIM	604489.0001	Disease	p.SER52PRO	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY\|\|BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INCLUDED

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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