Variant position: 151 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 658 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FNPFMAFNPDPKSEYNDQLT RATNMTVSAIRFLKTLRAGLL
Mouse FNPFMAFNPDPKSEYNDQLT RATNLTVSAVRFLKTLRAGLL
Rat FNPFMAFNPDPKSEYNDQLT RATNLTVSAVRFLKTLQAGLL
Bovine FNPFISFNPDPKSEYNDQLT RATNMTVSAIRFLKTLRADLL
Xenopus laevis SNPFMSFTPDPRPEYNSQLI RATNMTVSAMRFLKTMRAGYL
Xenopus tropicalis FNPFISFTPDPRPDYNRQLI RATNMTVSAMRFLKTMRAGYL
Zebrafish FNPFMSFNPDPKPEYNDQLV RATNMVCSAVRFMKTLRAGLL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
26 – 658 Carnitine O-palmitoyltransferase 2, mitochondrial
26 – 178 Mitochondrial matrix
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
Yang B.-Z.; Ding J.-H.; Dewese T.; Roe D.; He G.; Wilkinson J.; Day D.W.; Demaugre F.; Rabier D.; Brivet M.; Roe C.;
Mol. Genet. Metab. 64:229-236(1998)
Cited for: VARIANTS CPT2D LEU-113; GLN-151; LEU-227; ARG-550 AND SER-604; VARIANTS ILE-368 AND VAL-647;
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Olpin S.E.; Afifi A.; Clark S.; Manning N.J.; Bonham J.R.; Dalton A.; Leonard J.V.; Land J.M.; Andresen B.S.; Morris A.A.; Muntoni F.; Turnbull D.; Pourfarzam M.; Rahman S.; Pollitt R.J.;
J. Inherit. Metab. Dis. 26:543-557(2003)
Cited for: VARIANTS CPT2D GLN-151; ASP-210; GLN-296 AND ARG-600; VARIANTS ILE-368 AND VAL-647;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.