Sequence information
Variant position: 635 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:
KKGSTTRVNSTANAETQATS
A FQTQKPLKSTSLSLFYKKVY
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 KKGSTTRVNSTANAETQATSA FQTQKPLKSTSLSLFYKKVY
Mouse KRTSTTRVNSAANTETQAASA FHTQKPLKSTSLALFYKKVY
Rat KRTSTTRVNSAANTETQAASA FHTQKPLKSTSLSLFYKKVY
Chicken KKASGHPQSGTSNPDAQPSAT SQTQKPQKSTSLSLFYKKVF
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
373 – 771
Pocket; binds T and E1A
Region
580 – 639
Spacer
Modified residue
624 – 624
Phosphoserine
Literature citations
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.
Blanquet V.; Turleau C.; Gross-Morand M.S.; Senamaud-Beaufort C.; Doz F.; Besmond C.;
Hum. Mol. Genet. 4:383-388(1995)
Cited for: VARIANTS RB THR-185; PRO-635; GLU-654 AND PRO-685;
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.