UniProtKB/Swiss-Prot P23786: Variant p.Val368Ile

Carnitine O-palmitoyltransferase 2, mitochondrial
Gene: CPT2
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Variant information Variant position:

368 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Valine (V) to Isoleucine (I) at position 368 (V368I, p.Val368Ile). 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:

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:

3 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:

Risk factor for IIAE4; no effect on activity; does not affect affinity for L-carnitine; lower thermal stability compared to wild-type. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1799821 [ dbSNP | Ensembl ]

Sequence information Variant position:

368 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:

TNRWFDKSFNLIIAKDGSTA V HFEHSWGDGVAVLRFFNEVF 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                         TNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVF

Mouse                         TNRWFDKSFNLIVAKDGTAAVHFEHAWGDGVAVLRFFNEVF

Rat                           TNRWFDKSFNLIVAEDGTAAVHFEHSWGDGVAVLRFFNEVF

Bovine                        TNRWFDKSFNLIIAKDGTAAIHFEHAWGDGVAVLRFFNEVF

Xenopus laevis                LNRWFDKSFSIIMTEDGTAAINFEHSWGDGVAVLRFQNEVF

Xenopus tropicalis            LNRWFDKSFSIIMTEDGTAAVNFEHSWGDGVAVLRFQNEVF

Zebrafish                     CNRWYDKSFSVILAKDGQAAINFEHSWGDGVAVLRFQNEVF

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
Chain	26 – 658	Carnitine O-palmitoyltransferase 2, mitochondrial
Topological domain	209 – 658	Mitochondrial matrix
Active site	372 – 372	Proton acceptor

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; Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
Chen Y.; Mizuguchi H.; Yao D.; Ide M.; Kuroda Y.; Shigematsu Y.; Yamaguchi S.; Yamaguchi M.; Kinoshita M.; Kido H.;
FEBS Lett. 579:2040-2044(2005)
Cited for: ASSOCIATION OF VARIANTS CYS-352 AND ILE-368 WITH SUSCEPTIBILITY TO IIAE4; 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; Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
Mak C.M.; Lam C.W.; Fong N.C.; Siu W.K.; Lee H.C.; Siu T.S.; Lai C.K.; Law C.Y.; Tong S.F.; Poon W.T.; Lam D.S.; Ng H.L.; Yuen Y.P.; Tam S.; Que T.L.; Kwong N.S.; Chan A.Y.;
J. Hum. Genet. 56:617-621(2011)
Cited for: ASSOCIATION OF VARIANTS CYS-352 AND ILE-368 WITH SUSCEPTIBILITY TO IIAE4;

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.