Variant position: 616 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 LQNNHTAADMYLSPVRSPKK KGSTTRVNSTANAETQATSAF
Mouse LQGNHTAADMYLSPLRSPKK RTSTTRVNSAANTETQAASAF
Rat LQSNHTAADMYLSPIRSPKK RTSTTRVNSAANTETQAASAF
Chicken LQHNHTAADLYLSPVRSPKK KASGHPQSGTSNPDAQPSATS
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
580 – 639 Spacer
608 – 608 Phosphoserine
612 – 612 Phosphoserine; by CHEK2 and CHEK1
624 – 624 Phosphoserine
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
Yu Y.S.; Kim I.-J.; Ku J.-L.; Park J.-G.;
Hum. Mutat. 18:252-252(2001)
Cited for: VARIANTS RB GLY-500 AND GLU-616;
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.