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UniProtKB/Swiss-Prot P04637: Variant p.Leu344Pro

Cellular tumor antigen p53
Gene: TP53
Variant information

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

Type of variant:  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:  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

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                DEEIFTLRIKGRSRYEMIKKLNDALELQESLDQQKVT----

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
Modified residue 333 – 333 Omega-N-methylarginine; by PRMT5
Modified residue 335 – 335 Symmetric dimethylarginine; by PRMT5
Modified residue 337 – 337 Symmetric dimethylarginine; by PRMT5
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.