Variant position: 275 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 393 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 ITLEDSSGNLLGRNSFEVRV CACPGRDRRTEEENLRKKGEP
Rhesus macaque ITLEDSSGNLLGRNSFEVRV CACPGRDRRTEEENFRKKGEP
Mouse ITLEDSSGNLLGRDSFEVRV CACPGRDRRTEEENFRKKEVL
Rat ITLEDSSGNLLGRDSFEVRV CACPGRDRRTEEENFRKKEEH
Pig ITLEDASGNLLGRNSFEVRV CACPGRDRRTEEENFLKKGQS
Bovine ITLEDSCGNLLGRNSFEVRV CACPGRDRRTEEENLRKKGQS
Rabbit ITLEDSSGNLLGRNSFEVRV CACPGRDRRTEEENFRKKGEP
Sheep ITLEDSRGNLLGRSSFEVRV CACPGRDRRTEEENFRKKGQS
Cat ITLEDSNGKLLGRNSFEVRV CACPGRDRRTEEENFRKKGEP
Chicken LTLEGPGGQLLGRRCFEVRV CACPGRDRKIEEENFRKRGGA
Xenopus laevis ITLETPQGLLLGRRCFEVRV CACPGRDRRTEEDNYTKKRGL
Zebrafish ITLETQEGQLLGRRSFEVRV CACPGRDRKTEESNFKKDQET
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
1 – 393 Cellular tumor antigen p53
102 – 292
1 – 320 Interaction with CCAR2
100 – 370 Interaction with HIPK1
100 – 300 Required for interaction with ZNF385A
116 – 292 Interaction with AXIN1
256 – 294 Interaction with E4F1
273 – 280 Interaction with DNA
269 – 269 Phosphoserine; by AURKB
284 – 284 Phosphothreonine; by AURKB
291 – 291 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
292 – 292 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
269 – 269 S -> A. Abolishes phosphorylation.
269 – 269 S -> E. Inhibits strongly its transcriptional activity.
284 – 284 T -> E. Inhibits strongly its transcriptional activity.
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
Frebourg T.; Barbier N.; Yan Y.-X.; Garber J.E.; Dreyfus M.; Fraumeni J.F. Jr.; Li F.P.; Friend S.H.;
Am. J. Hum. Genet. 56:608-615(1995)
Cited for: VARIANTS LFS HIS-175; ARG-193; GLN-248; CYS-273 AND TYR-275;
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.