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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Pro309Ser

Cellular tumor antigen p53
Gene: TP53
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Variant information Variant position: help 309 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 Proline (P) to Serine (S) at position 309 (P309S, p.Pro309Ser). 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 hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 309 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 LRKKGEPHHELPPGSTKRAL P NNTSSSPQPKKKPLDGEYFT 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                         LRKKGEPH--HELPPGSTKRALPNNTS-SSPQPK--KKPL----DGEYFT

                              FHKKGEPC--PEPPPGSTKRALPPSTS-SSPPQK--KKPL-

Rhesus macaque                FRKKGEPC--HQLPPGSTKRALPNNTS-SSPQPK--KKPL-

Mouse                         FRKKEVLC--PELPPGSAKRALPTCTS-ASPPQK--KKPL-

Rat                           FRKKEEHC--PELPPGSAKRALPTSTS-SSPQQK--KKPL-

Pig                           FLKKGQSC--PEPPPGSTKRALPTSTS-SSPVQK--KKPL-

Bovine                        LRKKGQSC--PEPPPRSTKRALPTNTS-SSPQPK--KKPL-

Rabbit                        FRKKGEPC--PELPPGSSKRALPTTTTDSSPQTK--KKPL-

Sheep                         FRKKGQSC--PEPPPGSTKRALPSSTS-SSPQQK--KKPL-

Cat                           FRKKGEPC--PEPPPGSTKRALPPSTS-STPPQK--KKPL-

Chicken                       FRKRGGAG-------GVAKRAMSPPTE-APEPPK--KRVL-

Xenopus laevis                YTKKRGLK-----PSGKRELAHPPSSE--PPLPK--KRLVV

Zebrafish                     FKKDQETKTMAKTTTGTKRSLVKESSS-ATLRPEGSKKAKG
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
Region 1 – 320 Interaction with CCAR2
Region 100 – 370 Interaction with HIPK1
Region 282 – 325 Disordered
Region 300 – 393 Interaction with CARM1
Motif 305 – 321 Bipartite nuclear localization signal
Compositional bias 305 – 319 Polar residues
Modified residue 305 – 305 N6-acetyllysine
Modified residue 315 – 315 Phosphoserine; by AURKA, CDK1 and CDK2
Modified residue 321 – 321 N6-acetyllysine
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 319 – 319 K -> A. Loss of nuclear localization; when associated with A-320 and A-321.
Mutagenesis 320 – 320 K -> A. Loss of nuclear localization; when associated with A-319 and A-321.
Mutagenesis 321 – 321 K -> A. Loss of nuclear localization; when associated with A-319 and A-320.



Literature citations
Identification of a tumor-rejection antigen recognized by HLA-B46 restricted CTL.
Azuma K.; Shichijo S.; Itoh K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS HIS-273 AND SER-309;
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.