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UniProtKB/Swiss-Prot P06400: Variant p.Arg661Trp

Retinoblastoma-associated protein
Gene: RB1
Variant information

Variant position:  661
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 Arginine (R) to Tryptophan (W) at position 661 (R661W, p.Arg661Trp).
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 large size and aromatic (W)
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

Variant description:  In RB; mild form.
Any additional useful information about the variant.

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

Sequence information

Variant position:  661
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  928
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.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.





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 2 – 928 Retinoblastoma-associated protein
Region 373 – 771 Pocket; binds T and E1A
Region 640 – 771 Domain B
Helix 645 – 669

Literature citations

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
Onadim Z.; Hogg A.; Baird P.N.; Cowell J.K.;
Proc. Natl. Acad. Sci. U.S.A. 89:6177-6181(1992)
Cited for: VARIANT RB TRP-661;

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
Lohmann D.R.; Brandt B.; Hoepping W.; Passarge E.; Horsthemke B.;
Hum. Genet. 94:349-354(1994)
Cited for: VARIANTS RB ASN-480 DEL AND TRP-661;

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.
Van Orsouw N.J.; Li D.; van der Vlies P.; Scheffer H.; Eng C.; Buys C.H.C.M.; Li F.P.; Vijg J.;
Hum. Mol. Genet. 5:755-761(1996)
Cited for: VARIANTS RB GLY-358; PRO-657 AND TRP-661;

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
Lohmann D.R.; Gerick M.; Brandt B.; Oelschlaeger U.; Lorenz B.; Passarge E.; Horsthemke B.;
Am. J. Hum. Genet. 61:282-294(1997)
Cited for: VARIANTS RB ASP-137 AND TRP-661;

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.