UniProtKB/Swiss-Prot P05177: Variant p.Ile314Val

Cytochrome P450 1A2
Gene: CYP1A2
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Variant information Variant position:

314 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 Isoleucine (I) to Valine (V) at position 314 (I314V, p.Ile314Val). 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:

The CYP1A2*1F allele which is quite common (40 to 50%) is due to a substitution of a base in the non-coding region of the CYP1A2 gene and has the effect of decreasing the enzyme inducibility. Individuals who are homozygous for the CYP1A2*1F allele are 'slow' caffeine metabolizers. Thus for these individual increased intake of caffeine seems to be associated with a concomitant increase in the risk of non-fatal myocardial infraction (MI). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs28399418 [ dbSNP | Ensembl ]

Sequence information Variant position:

314 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

516 The length of the canonical sequence.
Location on the sequence:

GPRASGNLIPQEKIVNLVND I FGAGFDTVTTAISWSLMYLV 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                         GPRASGNLIPQEKIVNLVNDIFGAGFDTVTTAISWSLMYLV

                              SSRASDGHIPQEKIVNLINDIFGAGFDTVTTAISWSLMYLV

Mouse                         NYKDNGGLIPEEKIVNIVNDIFGAGFDTVTTAITWSILLLV

Rat                           NYKDNGGLIPQEKIVNIVNDIFGAGFETVTTAIFWSILLLV

Rabbit                        NSKANSGLIPQEKIVNLVNDIFGAGFDTITTALSWSLMYLV

Cat                           GSRANGGRIPHEKIVSLINDIFGAGFDTVTTAISWSLMYLV

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	2 – 516	Cytochrome P450 1A2
Helix	310 – 335

Literature citations
Sequence of a new human cytochrome P450-1A2 cDNA.
Zhuge J.; Qian Y.; Xie H.; Yu Y.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-314; Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population.
Solus J.F.; Arietta B.J.; Harris J.R.; Sexton D.P.; Steward J.Q.; McMunn C.; Ihrie P.; Mehall J.M.; Edwards T.L.; Dawson E.P.;
Pharmacogenomics 5:895-931(2004)
Cited for: VARIANTS CYS-18; ARG-298; VAL-314 AND TRP-431;

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.