UniProtKB/SwissProt variant VAR

Variant information

Variant position:

464

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 Arginine (R) to Serine (S) at position 464 (R464S, p.Arg464Ser).

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:

Change from large size and basic (R) to small size and polar (S)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-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:

In allele CYP1A1*5.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs41279188 [ dbSNP | Ensembl ]

Sequence information

Variant position:

464

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

Protein sequence length:

512

The length of the canonical sequence.

Location on the sequence:

SEKVIIFGMGKRKCIGETIA R WEVFLFLAILLQRVEFSVPL

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                         SEKVIIFGMGKRKCIGETIARWEVFLFLAILLQRVEFSVPL

                              SEKVILFGLGKRKCIGETIARLEVFLFLAILLQQVEFSVPE

Rhesus macaque                SEKVILFGLGKRKCIGETIARWEVFLFLAILLQRVEFSVPP

Mouse                         SEKVTLFGLGKRKCIGETIGRSEVFLFLAILLQQIEFKVSP

Rat                           SEKVILFGLGKRKCIGETIGRLEVFLFLAILLQQMEFNVSP

Rabbit                        TEKVLLFGLGKRKCIGETIGRLEVFLFLATLLQQVEFSVSP

Sheep                         SEKVIIFGLGKRQCIGEIIARLEVFLFLAILLHQVEFHVTP

Cat                           SEKVILFGLGKRKCIGETIARLEVFLFLAILLQQVEFSVPQ

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	1 – 512	Cytochrome P450 1A1
Metal binding	457 – 457	Iron (heme axial ligand)
Alternative sequence	190 – 512	Missing. In isoform 2.
Alternative sequence	419 – 512	Missing. In isoform 3.
Helix	460 – 477

Literature citations

Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population.
Chevalier D.; Allorge D.; Lo-Guidice J.-M.; Cauffiez C.; Lhermitte M.; Lafitte J.-J.; Broly F.;
Hum. Mutat. 17:355-355(2001)
Cited for: VARIANTS ILE-331 AND SER-464;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04798: Variant p.Arg464Ser