Results for the protein: Q15067

Results for the Protein: Q15067

126302511

51

ACOX1

NCBI, UniProt

ACOX1_HUMAN RecName: Full=Peroxisomal acyl-coenzyme A oxidase 1; Short=AOX; AltName: Full=Palmitoyl-CoA oxidase; AltName: Full=Straight-chain acyl-CoA oxidase; Short=SCOX

Known Diseases associated with this Protein:
ADRENOLEUKODYSTROPHY, PSEUDONEONATAL (PSEUDO-NALD)
PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

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7

Tips:

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Default View: AXO - cd01150 VLCAD - cd01161 CaiA - COG1960 ACAD - cd00567 GCD - cd01151 Acyl-CoA_dh_M - pfam02770 ACOX - pfam01756	Swiss-Prot Protein: Q15067 Identical to: NP_009223 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
VLCAD	cd01161	0.00052	17	440
CaiA	COG1960	1.9e-08	22	442
ACAD	cd00567	5.6e-70	31	433
GCD	cd01151	3.9e-05	39	434
Acyl-CoA_dh_M	pfam02770	0.00023	135	195
ACOX	pfam01756	1.4e-89	476	660

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35629489	Polymorphism	p.ARG591CYS	N/A
Swiss-Prot	VAR_067043	Disease	p.GLN309ARG	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-Prot	VAR_025789	Disease	p.GLY178CYS	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
dbSNP	rs3744032	Polymorphism	p.GLY101SER	N/A
Swiss-Prot	VAR_067042	Disease	p.GLY231VAL	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
dbSNP	rs1135640	Polymorphism	p.ILE312MET	N/A
Swiss-Prot	VAR_025790	Disease	p.MET278VAL	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-Prot	VAR_067041	Disease	p.SER184LEU	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-Prot	VAR_067044	Disease	p.SER310PRO	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-Prot	VAR_030619	Polymorphism	p.THR153ILE	N/A
OMIM	609751.0005	Disease	p.ARG148TER	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM	609751.0004	Disease	p.GLN309ARG	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM	609751.0003	Disease	p.GLY178CYS	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM	609751.0002	Disease	p.MET278VAL	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

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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