UniProtKB/Swiss-Prot P04637: Variant p.Asp324Tyr

Cellular tumor antigen p53
Gene: TP53
Chromosomal location: 17p13.1
Variant information

Variant position:  324
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Tyrosine (Y) at position 324 (D324Y, p.Asp324Tyr).
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:  Change from medium size and acidic (D) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In a sporadic cancer; somatic mutation.
Any additional useful information about the variant.

Sequence information

Variant position:  324
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  393
The length of the canonical sequence.

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.



Rhesus macaque                TKRALPNNTS-SSPQPK----KK----PLDGEYFTLQIRGR

Mouse                         AKRALPTCTS-ASPPQK----KK----PLDGEYFTLKIRGR

Rat                           AKRALPTSTS-SSPQQK----KK----PLDGEYFTLKIRGR

Pig                           TKRALPTSTS-SSPVQK----KK----PLDGEYFTLQIRGR

Bovine                        TKRALPTNTS-SSPQPK----KK----PLDGEYFTLQIRGF

Rabbit                        SKRALPTTTTDSSPQTK----KK----PLDGEYFILKIRGR

Sheep                         TKRALPSSTS-SSPQQK----KK----PLDGEYFTLQIRGR

Cat                           TKRALPPSTS-STPPQK----KK----PLDGEYFTLQIRGR

Chicken                       AKRAMSPPTE-APEPPK----KR--VLNPDNEIFYLQVRGR



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.

Chain 1 – 393 Cellular tumor antigen p53
Region 100 – 370 Interaction with HIPK1
Region 300 – 393 Interaction with CARM1
Region 319 – 360 Interaction with HIPK2
Modified residue 305 – 305 N6-acetyllysine
Modified residue 315 – 315 Phosphoserine; by AURKA, CDK1 and CDK2
Modified residue 321 – 321 N6-acetyllysine
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

No reference for the current variant in UniProtKB/Swiss-Prot.

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.