UniProtKB/SwissProt variant VAR

Variant information

Variant position:

803

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

Type of variant:

LP/P [Disclaimer]

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 Asparagine (N) to Lysine (K) at position 803 (N803K, p.Asn803Lys).

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 medium size and polar (N) to large size and basic (K)

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

BLOSUM score:

0

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 RB.

Any additional useful information about the variant.

Sequence information

Variant position:

803

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

Protein sequence length:

928

The length of the canonical sequence.

Location on the sequence:

PHIPRSPYKFPSSPLRIPGG N IYISPLKSPYKISEGLPTPT

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                         PHIPRSPYKFPSSPLRIPGG-NIYISPLKSPYKISEGLPTPT

Mouse                         PHIPRSPYKFSSSPLRIPGG-NIYISPLKSPYKISEGLPTP

Rat                           PHIPRSPYKFSSSPLRIPGG-NIYISPLKSPYKISEGLPTP

Chicken                       PHIPRSPYQFSNSPRRVPAGNNIYISPLKSPYKFSDGFHSP

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 – 928	Retinoblastoma-associated protein
Region	763 – 928	Interaction with LIMD1
Region	771 – 928	Domain C; mediates interaction with E4F1
Modified residue	788 – 788	Phosphoserine
Modified residue	795 – 795	Phosphoserine
Modified residue	807 – 807	Phosphoserine; by CDK1 and CDK3
Modified residue	810 – 810	N6-methyllysine; by SMYD2
Modified residue	811 – 811	Phosphoserine; by CDK1 and CDK3
Modified residue	821 – 821	Phosphothreonine; by CDK6
Modified residue	823 – 823	Phosphothreonine
Mutagenesis	821 – 821	T -> A. Abolishes interaction with Pocket domain; when associated with A-826.

Literature citations

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.
Liu Z.; Song Y.; Bia B.; Cowell J.K.;
Genes Chromosomes Cancer 14:277-284(1995)
Cited for: VARIANTS RB GLN-72; TYR-549 AND LYS-803;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06400: Variant p.Asn803Lys