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UniProtKB/Swiss-Prot Q16696: Variant p.Asp158Glu

Cytochrome P450 2A13
Gene: CYP2A13
Variant information

Variant position:  158
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 Aspartate (D) to Glutamate (E) at position 158 (D158E, p.Asp158Glu).
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 acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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:  The frequencies of the Cys-257 allele in white, black, Hispanic, and Asian individuals are 1.9%, 14.4%, 5.8%, and 7.7%, respectively. The Cys-257 variant is 37 to 56% less active than the wild-type Arg-257 protein toward all substrates tested.
Additional information on the polymorphism described.

Variant description:  In allele CYP2A13*3 and allele CYP2A13*8.
Any additional useful information about the variant.

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

Sequence information

Variant position:  158
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  494
The length of the canonical 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.

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.

Chain 1 – 494 Cytochrome P450 2A13
Helix 143 – 161

Literature citations

Genetic polymorphism of the human cytochrome CYP2A13 in a French population: implication in lung cancer susceptibility.
Cauffiez C.; Lo-Guidice J.-M.; Quaranta S.; Allorge D.; Chevalier D.; Cenee S.; Hamdan R.; Lhermitte M.; Lafitte J.-J.; Libersa C.; Colombel J.-F.; Stuecker I.; Broly F.;
Biochem. Biophys. Res. Commun. 317:662-669(2004)

Eighteen novel polymorphisms of the CYP2A13 gene in Japanese.
Fujieda M.; Yamazaki H.; Kiyotani K.; Muroi A.; Kunitoh H.; Dosaka-Akita H.; Sawamura Y.; Kamataki T.;
Drug Metab. Pharmacokinet. 18:86-90(2003)
Cited for: VARIANTS GLN-25; GLN-101; THR-134 INS; GLU-158; TYR-453 AND CYS-494;

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.