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.
Location on the 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.
Human PLKSTSLSLFYKKVYRLAYL RLNTLCERLLSEHPELEHIIW
Mouse PLKSTSLALFYKKVYRLAYL RLNTLCARLLSDHPELEHIIW
Rat PLKSTSLSLFYKKVYRLAYL RLNTLCARLLSDHPELEHIIW
Chicken PQKSTSLSLFYKKVFRLAYL RLHTLFFRLLSEHPDLEPLIW
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.
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;
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.