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UniProtKB/Swiss-Prot P11597: Variant p.Val422Ile

Cholesteryl ester transfer protein
Gene: CETP
Variant information

Variant position:  422
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Valine (V) to Isoleucine (I) at position 422 (V422I, p.Val422Ile).
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

Polymorphism:  Genetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470].
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  422
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  493
The length of the canonical sequence.

Location on the sequence:   LDFQITPKTVSNLTESSSES  V QSFLQSMITAVGIPEVMSRL
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                         LDFQITPKTVSNLTESSS--ESVQSFLQSMITAVGIPEVMSRL

Chicken                       VDSQIEFKVFNCTADPSGNDQSVRNFLQKMISAVGIPEVIS

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.

TypePositionsDescription
Chain 18 – 493 Cholesteryl ester transfer protein
Glycosylation 413 – 413 N-linked (GlcNAc...) asparagine
Mutagenesis 433 – 433 V -> R. Reduces activity by 60%.
Helix 420 – 432


Literature citations

Cloning and sequencing of human cholesteryl ester transfer protein cDNA.
Drayna D.; Jarnagin A.S.; McLean J.; Henzel W.; Kohr W.; Fielding C.; Lawn R.;
Nature 327:632-634(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; FUNCTION; TISSUE SPECIFICITY; VARIANT ILE-422;

Submission
Rieder M.J.; da Ponte S.H.; Kuldanek S.A.; Rajkumar N.; Smith J.D.; Toth E.J.; Nickerson D.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ILE-422;

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] (ISOFORM 1); VARIANT ILE-422;

Submission
Dinchuk J.E.; Hart J.T.; Wirak D.O.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-493 (ISOFORM 2); VARIANT ILE-422;

Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS SER-331; PRO-390; ILE-422 AND MET-486;

Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANTS GLY-15; MET-385; PRO-390; ILE-422 AND GLN-468;

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.