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Results for the Protein: NP_001171968
297206874
51

peroxisomal acyl-coenzyme A oxidase 1 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY
4
2
4
2
0
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Default View:

GCD - cd01151
AXO - cd01150
ACAD - cd00567
CaiA - COG1960
Acyl-CoA_dh_M - pfam02770
ACOX - pfam01756




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AXOcd011501600
GCDcd011510.000561396
ACADcd005672.6e-683395
CaiACOG19601.1e-084404
Acyl-CoA_dh_Mpfam027700.0002397157
ACOXpfam017561.4e-89438622

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35629489 Polymorphismp.ARG553CYSN/A
dbSNPrs1135640 Polymorphismp.ILE274METN/A
OMIM609751.0005 Diseasep.ARG110TERPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM609751.0004 Diseasep.GLN271ARGPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM609751.0003 Diseasep.GLY140CYSPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM609751.0002 Diseasep.MET240VALPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY



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