Variant position: 567 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 IKHLERCEHRIMESLAWLSD SPLFDLIKQSKDREGPTDHLE
Mouse IKHLERCEHRIMESLAWLSD SPLFDLIKQSKDGEGP-DNLE
Rat IKHLERCEHRIMESLAWLSD SPLFDLIKQSKDGEGP-DHLE
Chicken IKHLERCEHRIMESLAWQSD SPLFDLIKQSKEREGQTDQPE
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
2 – 928 Retinoblastoma-associated protein
373 – 771 Pocket; binds T and E1A
373 – 579 Domain A
567 – 567 Phosphoserine; by CDK2
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
Yandell D.W.; Campbell T.A.; Dayton S.H.; Petersen R.; Walton D.; Little J.B.; McConkie-Rosell A.; Buckley E.; Dryja T.P.;
N. Engl. J. Med. 321:1689-1695(1989)
Cited for: VARIANT RB LEU-567;
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma.
Yilmaz S.; Horsthemke B.; Lohmann D.R.;
Hum. Mutat. 12:434-434(1998)
Cited for: VARIANTS RB LEU-567; PRO-662 AND ARG-712;
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.