Sequence information
Variant position: 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 303 The length of the canonical sequence.
Location on the sequence:
SRYEPVAEIGVGAYGTVYKA
R DPHSGHFVALKSVRVPNGGG
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 SRYEP------------------------------------------------VAEIGVGAYGTVYKAR DPHSGHFVALKSVRVPNGGG
Mouse TRYEP------------------------------------
Rat TRYEP------------------------------------
Pig SRYEP------------------------------------
Bovine SRYEP------------------------------------
Sheep SRYEP------------------------------------
Xenopus laevis GQYEP------------------------------------
Caenorhabditis elegans QRQKPSNFHFWTVIKKFSKKILKSFIIKFGNNGTIAVVFSI
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 – 303
Cyclin-dependent kinase 4
Domain
6 – 295
Protein kinase
Binding site
35 – 35
ATP
Alternative sequence
1 – 120
Missing. In isoform 2.
Beta strand
20 – 24
Literature citations
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France.
Soufir N.; Avril M.-F.; Chompret A.; Demenais F.; Bombled J.; Spatz A.; Stoppa-Lyonnet D.; Benard J.; Bressac-De Paillerets B.;
Hum. Mol. Genet. 7:209-216(1998)
Cited for: VARIANT CMM3 HIS-24;
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.