Results for the protein: P23786

Results for the Protein: P23786

416836

1376

CPT2

NCBI, UniProt

CPT2_HUMAN RecName: Full=Carnitine O-palmitoyltransferase 2, mitochondrial; AltName: Full=Carnitine palmitoyltransferase II; Short=CPT II; Flags: Precursor

Known Diseases associated with this Protein:
  CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY LATE-ONSET (CPT2D)
  CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
  CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, INCLU
  CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
  CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET, INCLU
  CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
  ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
  MYOPATHY, VARIABLE

34

6

14

3

23

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Default View:	Swiss-Prot Protein: P23786 Identical to: NP_000089 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 ↕
Swiss-Prot	VAR_007970	Disease	p.ARG503CYS	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_001399	Disease	p.ARG631CYS	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_020540	Disease	p.ARG151GLN	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_020542	Disease	p.ARG296GLN	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_001397	Disease	p.ASP553ASN	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_037976	Disease	p.ASP213GLY	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_020543	Disease	p.GLN550ARG	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_001393	Disease	p.GLU174LYS	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_020544	Disease	p.GLY600ARG	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_007971	Disease	p.GLY549ASP	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_007966	Disease	p.MET214THR	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
dbSNP	rs1799822	Polymorphism	p.MET647VAL	N/A
dbSNP	rs2229291	Polymorphism	p.PHE352CYS	N/A
Swiss-Prot	VAR_007968	Disease	p.PHE448LEU	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_001396	Disease	p.PHE383TYR	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_001391	Disease	p.PRO50HIS	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_007967	Disease	p.PRO227LEU	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_066567	Polymorphism	p.PRO504LEU	N/A
Swiss-Prot	VAR_020545	Disease	p.PRO604SER	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_011741	Polymorphism	p.SER588CYS	N/A
Swiss-Prot	VAR_001392	Disease	p.SER113LEU	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_020541	Disease	p.TYR210ASP	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_007969	Disease	p.TYR479PHE	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
Swiss-Prot	VAR_001398	Disease	p.TYR628SER	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)
dbSNP	rs1799821	Polymorphism	p.VAL368ILE	N/A
Swiss-Prot	VAR_066568	Polymorphism	p.VAL605LEU	N/A
OMIM	600650.0008	Disease	p.ARG503CYS	MYOPATHY, VARIABLE
OMIM	600650.0001	Disease	p.ARG631CYS	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE\|\|CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET, INCLU
OMIM	600650.0004	Disease	p.ASP553ASN	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
OMIM	600650.0016	Disease	p.ASP213GLY	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
OMIM	600650.0006	Disease	p.GLU174LYS	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
OMIM	600650.0015	Disease	p.GLU454TER	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
OMIM	600650.0018	Disease	p.PHE352CYS	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
OMIM	600650.0007	Disease	p.PHE383TYR	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE\|\|CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET, INCLU
OMIM	600650.0003	Disease	p.PRO50HIS	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET\|\|CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, INCLU
OMIM	600650.0013	Disease	p.PRO227LEU	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
OMIM	600650.0002	Disease	p.SER113LEU	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
OMIM	600650.0017	Disease	p.TYR120CYS	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
OMIM	600650.0005	Disease	p.TYR628SER	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE\|\|CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET, INCLU
OMIM	600650.0018	Disease	p.VAL368ILE	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4

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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