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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23786: Variant p.Met647Val

Carnitine O-palmitoyltransferase 2, mitochondrial
Gene: CPT2
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Variant information Variant position: help 647 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Methionine (M) to Valine (V) at position 647 (M647V, p.Met647Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help Confirmed at protein level. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 647 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 658 The length of the canonical sequence.
Location on the sequence: help SYPGRNAREFLQCVEKALED M FDALEGKSIKS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SYPGRNAREFLQCVEKALEDMFDALEGKSIKS

Mouse                         SYSGRNAREFLHCVQKCLEDMFDALEGKAIKT

Rat                           SYSGRNAREFLHCVQKCLEDIFDALEGKAIKT

Bovine                        AYQSRNAREFLQCVEKALEDMFDALEGKMIKT

Xenopus laevis                SYPARDVRQFVQCVHQSLDDIFSVLQDKPLK-

Xenopus tropicalis            SYQTRDVRQFVECVHQSLDDIFTVLQDKPIK-

Zebrafish                     SYPARDVHEFLRCVHKSLEDIFTVLDGNPIH-

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 26 – 658 Carnitine O-palmitoyltransferase 2, mitochondrial
Topological domain 209 – 658 Mitochondrial matrix



Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT CPT2D LEU-113; VARIANTS ILE-368 AND VAL-647; Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.
Taroni F.; Verderio E.; Fiorucci S.; Cavadini P.; Finocchiaro G.; Uziel G.; Lamantea E.; Gellera C.; Didonato S.;
Proc. Natl. Acad. Sci. U.S.A. 89:8429-8433(1992)
Cited for: INVOLVEMENT IN CPT2DI; VARIANT CPT2DI CYS-631; VARIANTS ILE-368 AND VAL-647; Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Wataya K.; Akanuma J.; Cavadini P.; Aoki Y.; Kure S.; Invernizzi F.; Yoshida I.; Kira J.; Taroni F.; Matsubara Y.; Narisawa K.;
Hum. Mutat. 11:377-386(1998)
Cited for: VARIANTS CPT2D LYS-174 AND TYR-383; VARIANTS CYS-352; ILE-368 AND VAL-647; 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; Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data.
Bunger M.K.; Cargile B.J.; Sevinsky J.R.; Deyanova E.; Yates N.A.; Hendrickson R.C.; Stephenson J.L. Jr.;
J. Proteome Res. 6:2331-2340(2007)
Cited for: VARIANT VAL-647; IDENTIFICATION BY MASS SPECTROMETRY; Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.
Yao D.; Mizuguchi H.; Yamaguchi M.; Yamada H.; Chida J.; Shikata K.; Kido H.;
Hum. Mutat. 29:718-727(2008)
Cited for: VARIANTS CYS-352; ILE-368; LEU-504; LEU-605 AND VAL-647; CHARACTERIZATION OF VARIANTS CYS-352 AND ILE-368;
Disclaimer: 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.