Results for the protein: P50416

Results for the Protein: P50416

56405343

1374

CPT1A

NCBI, UniProt

CPT1A_HUMAN RecName: Full=Carnitine O-palmitoyltransferase 1, liver isoform; Short=CPT1-L; AltName: Full=Carnitine O-palmitoyltransferase I, liver isoform; Short=CPT I; Short=CPTI-L; AltName: Full=Carnitine palmitoyltransferase 1A

Known Diseases associated with this Protein:
CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY (CPT1AD)
CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY

22

2

7

1

16

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Default View: Carn_acyltransf - pfam00755	Swiss-Prot Protein: P50416 Identical to: NP_001867 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2229738	Polymorphism	p.ALA275PRO	N/A
Swiss-Prot	VAR_020547	Polymorphism	p.ALA275THR	N/A
Swiss-Prot	VAR_020553	Disease	p.ALA414VAL	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020546	Disease	p.ARG123CYS	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_046767	Disease	p.ARG316GLY	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020550	Disease	p.ARG357TRP	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020554	Disease	p.ASP454GLY	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020548	Disease	p.CYS304TRP	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020551	Disease	p.GLU360GLY	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020558	Disease	p.GLY709GLU	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020559	Disease	p.GLY710GLU	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_046769	Disease	p.GLY465TRP	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020556	Disease	p.LEU484PRO	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_046768	Disease	p.PHE343VAL	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020555	Disease	p.PRO479LEU	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020549	Disease	p.THR314ILE	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Swiss-Prot	VAR_020557	Disease	p.TYR498CYS	Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
OMIM	600528.0004	Disease	p.ALA414VAL	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
OMIM	600528.0001	Disease	p.ASP454GLY	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
OMIM	600528.0003	Disease	p.GLN100TER	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
OMIM	600528.0002	Disease	p.GLU360GLY	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
OMIM	600528.0009	Disease	p.GLY709GLU	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
OMIM	600528.0011	Disease	p.GLY710GLU	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
OMIM	600528.0005	Disease	p.TYR498CYS	CARNITINE PALMITOYLTRANSFERASE IA 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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