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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Cys275Tyr

Cellular tumor antigen p53
Gene: TP53
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Variant information Variant position: help 275 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 275 (C275Y, p.Cys275Tyr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In LFS; germline mutation and in sporadic cancers; somatic mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 275 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 393 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
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 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.
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.