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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Arg248Trp

Cellular tumor antigen p53
Gene: TP53
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Variant information Variant position: help 248 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 Arginine (R) to Tryptophan (W) at position 248 (R248W, p.Arg248Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 248 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 DCTTIHYNYMCNSSCMGGMN R RPILTIITLEDSSGNLLGRN 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                         DCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRN

                              DYTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNVLGRN

Rhesus macaque                DCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRN

Mouse                         EYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRD

Rat                           DYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRD

Pig                           DCTTIHYNFMCNSSCMGGMNRRPILTIITLEDASGNLLGRN

Bovine                        ECTTIHYNFMCNSSCMGGMNRRPILTIITLEDSCGNLLGRN

Rabbit                        DCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRN

Sheep                         ECTTIHYNFMCNSSCMGGMNRRPILTIITLEDSRGNLLGRS

Cat                           DCTTIHYNFMCNSSCMGGMNRRPIITIITLEDSNGKLLGRN

Chicken                       DCTTVLYNFMCNSSCMGGMNRRPILTILTLEGPGGQLLGRR

Xenopus laevis                ECTTVLYNYMCNSSCMGGMNRRPILTIITLETPQGLLLGRR

Zebrafish                     EWTTVLLNYMCNSSCMGGMNRRPILTIITLETQEGQLLGRR
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 241 – 248 Interaction with the 53BP2 SH3 domain
Binding site 238 – 238
Binding site 242 – 242
Mutagenesis 248 – 248 R -> S. Does not induce SNAI1 degradation.
Turn 243 – 248



Literature citations
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
Malkin D.; Li F.P.; Strong L.C.; Fraumeni J.F. Jr.; Nelson C.E.; Kim D.H.; Kassel J.; Gryka M.A.; Bischoff F.Z.; Tainsky M.A.; Friend S.H.;
Science 250:1233-1238(1990)
Cited for: VARIANTS LFS CYS-245; TRP-248; PRO-252 AND LYS-258; Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.
Audrezet M.-P.; Robaszkiewicz M.; Mercier B.; Nousbaum J.-B.; Hardy E.; Bail J.-P.; Volant A.; Lozac'H P.; Gouerou H.; Ferec C.;
Hum. Mutat. 7:109-113(1996)
Cited for: VARIANTS SPORADIC CANCERS PHE-176; SER-245; TRP-248; TRP-282 AND GLN-286; The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-134; PHE-157; CYS-163; HIS-175; ARG-177; ARG-193; PRO-213; PHE-241; PHE-242; GLN-248; TRP-248; SER-249; TRP-267; LYS-271; CYS-273; HIS-273; LEU-273; SER-278; ILE-280 AND HIS-281; Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3.
Guan Y.; Huang D.; Chen F.; Gao C.; Tao T.; Shi H.; Zhao S.; Liao Z.; Lo L.J.; Wang Y.; Chen J.; Peng J.;
PLoS Biol. 14:e1002555-e1002555(2016)
Cited for: VARIANTS VAL-138; HIS-175; ILE-237; TRP-248 AND PRO-273;
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.