Sequence information
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:
ITLEDSSGNLLGRNSFEVRV
C ACPGRDRRTEEENLRKKGEP
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 ITLEDSSGNLLGRNSFEVRVC ACPGRDRRTEEENLRKKGEP
ITLEDSSGNVLGRNSFEVRVC ACPGRDRRTEEENFHKKGEP
Rhesus macaque ITLEDSSGNLLGRNSFEVRVC ACPGRDRRTEEENFRKKGEP
Mouse ITLEDSSGNLLGRDSFEVRVC ACPGRDRRTEEENFRKKEVL
Rat ITLEDSSGNLLGRDSFEVRVC ACPGRDRRTEEENFRKKEEH
Pig ITLEDASGNLLGRNSFEVRVC ACPGRDRRTEEENFLKKGQS
Bovine ITLEDSCGNLLGRNSFEVRVC ACPGRDRRTEEENLRKKGQS
Rabbit ITLEDSSGNLLGRNSFEVRVC ACPGRDRRTEEENFRKKGEP
Sheep ITLEDSRGNLLGRSSFEVRVC ACPGRDRRTEEENFRKKGQS
Cat ITLEDSNGKLLGRNSFEVRVC ACPGRDRRTEEENFRKKGEP
Chicken LTLEGPGGQLLGRRCFEVRVC ACPGRDRKIEEENFRKRGGA
Xenopus laevis ITLETPQGLLLGRRCFEVRVC ACPGRDRRTEEDNYTKKRGL
Zebrafish ITLETQEGQLLGRRSFEVRVC ACPGRDRKTEESNFKKDQET
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
1 – 393
Cellular tumor antigen p53
DNA binding
102 – 292
Region
1 – 320
Interaction with CCAR2
Region
100 – 370
Interaction with HIPK1
Region
100 – 300
Required for interaction with ZNF385A
Region
116 – 292
Interaction with AXIN1
Region
256 – 294
Interaction with E4F1
Region
273 – 280
Interaction with DNA
Modified residue
269 – 269
Phosphoserine; by AURKB
Modified residue
284 – 284
Phosphothreonine; by AURKB
Cross
291 – 291
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross
292 – 292
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis
269 – 269
S -> A. Abolishes phosphorylation.
Mutagenesis
269 – 269
S -> E. Inhibits strongly its transcriptional activity.
Mutagenesis
284 – 284
T -> E. Inhibits strongly its transcriptional activity.
Literature citations
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;
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.