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UniProtKB/Swiss-Prot P06400: Variant p.Asn803Lys

Retinoblastoma-associated protein
Gene: RB1
Chromosomal location: 13q14.2
Variant information

Variant position:  803
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 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

Involvement in disease:  Childhood cancer retinoblastoma (RB) [MIM:180200]: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated. {ECO:0000269|PubMed:10671068, ECO:0000269|PubMed:11524739, ECO:0000269|PubMed:1352883, ECO:0000269|PubMed:2594029, ECO:0000269|PubMed:7704558, ECO:0000269|PubMed:7795591, ECO:0000269|PubMed:7927327, ECO:0000269|PubMed:8346255, ECO:0000269|PubMed:8605116, ECO:0000269|PubMed:8776589, ECO:0000269|PubMed:9140452, ECO:0000269|PubMed:9311732, ECO:0000269|PubMed:9973307}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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.

TypePositionsDescription
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;

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.