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UniProtKB/Swiss-Prot P04637: Variant p.Cys275Tyr

Cellular tumor antigen p53
Gene: TP53
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Variant information Variant position: help 275
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 275 (C275Y, p.Cys275Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In LFS; germline mutation and in sporadic cancers; somatic mutation.
Other resources: help


Sequence information Variant position: help 275
Protein sequence length: help 393
Location on the sequence: help ITLEDSSGNLLGRNSFEVRV C ACPGRDRRTEEENLRKKGEP
Residue conservation: help 
Human                         ITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEP

                              ITLEDSSGNVLGRNSFEVRVCACPGRDRRTEEENFHKKGEP

Rhesus macaque                ITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENFRKKGEP

Mouse                         ITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEVL

Rat                           ITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEH

Pig                           ITLEDASGNLLGRNSFEVRVCACPGRDRRTEEENFLKKGQS

Bovine                        ITLEDSCGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGQS

Rabbit                        ITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENFRKKGEP

Sheep                         ITLEDSRGNLLGRSSFEVRVCACPGRDRRTEEENFRKKGQS

Cat                           ITLEDSNGKLLGRNSFEVRVCACPGRDRRTEEENFRKKGEP

Chicken                       LTLEGPGGQLLGRRCFEVRVCACPGRDRKIEEENFRKRGGA

Xenopus laevis                ITLETPQGLLLGRRCFEVRVCACPGRDRRTEEDNYTKKRGL

Zebrafish                     ITLETQEGQLLGRRSFEVRVCACPGRDRKTEESNFKKDQET
Sequence annotation in neighborhood: help
TypePositionsDescription
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.