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:
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 PHIPRSPYQFSNSPRRVPAGN NIYISPLKSPYKFSDGFHSP
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
763 – 928 Interaction with LIMD1
771 – 928 Domain C; mediates interaction with E4F1
788 – 788 Phosphoserine
795 – 795 Phosphoserine
807 – 807 Phosphoserine; by CDK1 and CDK3
810 – 810 N6-methyllysine; by SMYD2
811 – 811 Phosphoserine; by CDK1 and CDK3
821 – 821 Phosphothreonine; by CDK6
823 – 823 Phosphothreonine
821 – 821 T -> A. Abolishes interaction with Pocket domain; when associated with A-826.
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;
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.