Sequence information
Variant position: 530 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:
TDLSFPWILNVLNLKAFDFY
K VIESFIKAEGNLTREMIKHL
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 TDLSFPWILNVLNLKAFDFYK VIESFIKAEGNLTREMIKHL
Mouse TDLSFPWILNVLNLKAFDFYK VIESFIKVEANLTREMIKHL
Rat TDLSFPWILNVLNLKAFDFYK VIESFIKVEANLTREMIKHL
Chicken TDLSFPWILNVFDLKAFDFYK VIESFIKVEPSLTRDMIKHL
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
373 – 579
Domain A
Literature citations
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.
Cowell J.K.; Smith T.; Bia B.;
Eur. J. Hum. Genet. 2:281-290(1994)
Cited for: VARIANT RB ARG-530;
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.