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UniProtKB/Swiss-Prot P04637: Variant p.Leu344Pro

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

Variant position:  344
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Leucine (L) to Proline (P) at position 344 (L344P, p.Leu344Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

Involvement in disease:  Li-Fraumeni syndrome (LFS) [MIM:151623]: An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. {ECO:0000269|PubMed:10484981, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:1737852, ECO:0000269|PubMed:1933902, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:2259385, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920, ECO:0000269|PubMed:9452042}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In LFS; germline mutation and in a sporadic cancer; somatic mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  344
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

Location on the sequence:   DGEYFTLQIRGRERFEMFRE  L NEALELKDAQAGKEPGGSRA
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.

Human                         DGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRA---

                              DGEYFTLQIRGRERYEMFRNLNEALELKDAQSGKEPGGSRA

Rhesus macaque                DGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPAGSRA

Mouse                         DGEYFTLKIRGRKRFEMFRELNEALELKDAHATEESGDSRA

Rat                           DGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRA

Pig                           DGEYFTLQIRGRERFEMFRELNDALELKDAQTARESGENRA

Bovine                        DGEYFTLQIRGFKRYEMFRELNDALELKDALDGREPGESRA

Rabbit                        DGEYFILKIRGRERFEMFRELNEALELKDAQAEKEPGGSRA

Sheep                         DGEYFTLQIRGRKRFEMFRELNEALELMDAQAGREPGESRA

Cat                           DGEYFTLQIRGRERFEMFRELNEALELKDAQSGKEPGGSRA

Chicken                       DNEIFYLQVRGRRRYEMLKEINEALQLAEGGSAPRPSKGRR

Xenopus laevis                DEEIFTLRIKGRSRYEMIKKLNDALELQESLDQQKV-----

Zebrafish                     DEEIFTLQVRGRERYEILKKLNDSLELSDVVPASDAEKYRQ

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.

TypePositionsDescription
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
Region 325 – 356 Oligomerization
Motif 339 – 350 Nuclear export signal
Alternative sequence 332 – 346 IRGRERFEMFRELNE -> MLLDLRWCYFLINSS. In isoform 3, isoform 6 and isoform 9.
Alternative sequence 342 – 393 Missing. In isoform 2, isoform 5 and isoform 8.
Mutagenesis 359 – 359 P -> D. Abolishes binding to USP7.
Mutagenesis 361 – 361 G -> E. Abolishes binding to USP7.
Mutagenesis 362 – 362 S -> A. Abolishes binding to USP7.
Helix 335 – 354


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.