UniProtKB/Swiss-Prot P04637 : Variant p.His365Tyr
Cellular tumor antigen p53
Gene: TP53
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Variant information
Variant position:
365
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
US
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 Histidine (H) to Tyrosine (Y) at position 365 (H365Y, p.His365Tyr).
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 polar (H) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
2
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 familial cancer not matching 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:
365
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:
NEALELKDAQAGKEPGGSRA
H SSHLKSKKGQSTSRHKKLMF
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 NEALELKDAQAGKEPGGSRAH ---SSHLKSKKGQSTSRHKKLMF
NEALELKDAQSGKEPGGSRAH ---SSHLKAKKGQSTSRHKK
Rhesus macaque NEALELKDAQAGKEPAGSRAH ---SSHLKSKKGQSTSRHKK
Mouse NEALELKDAHATEESGDSRAH ---SSYLKTKKGQSTSRHKK
Rat NEALELKDARAAEESGDSRAH ---SSYPKTKKGQSTSRHKK
Pig NDALELKDAQTARESGENRAH ---SSHLKSKKGQSPSRHKK
Bovine NDALELKDALDGREPGESRAH ---SSHLKSKKRPSPSCHKK
Rabbit NEALELKDAQAEKEPGGSRAH ---SSYLKAKKGQSTSRHKK
Sheep NEALELMDAQAGREPGESRAH ---SSHLKSKKGPSPSCHKK
Cat NEALELKDAQSGKEPGGSRAH ---SSHLKAKKGQSTSRHKK
Chicken NEALQLAEGGSAPRPS----- ---KGRRVKVEGPQPSCGKK
Xenopus laevis NDALELQESLDQQKVT----- ---IKCRKCRDEIKPKKGKK
Zebrafish NDSLELSDVVPASDAEKYRQK FMTKNKKENRESSEPKQGKK
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.
Type Positions Description
Chain
1 – 393
Cellular tumor antigen p53
Region
100 – 370
Interaction with HIPK1
Region
300 – 393
Interaction with CARM1
Region
351 – 393
Disordered
Modified residue
370 – 370
N6,N6-dimethyllysine; alternate
Modified residue
370 – 370
N6-methyllysine; by SMYD2; alternate
Modified residue
372 – 372
N6-methyllysine; by SETD7
Modified residue
373 – 373
N6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate
Modified residue
373 – 373
N6-acetyllysine; alternate
Modified residue
381 – 381
N6-acetyllysine
Modified residue
382 – 382
N6,N6-dimethyllysine; alternate
Modified residue
382 – 382
N6-acetyllysine; by KAT6A; alternate
Modified residue
382 – 382
N6-methyllysine; by KMT5A; alternate
Alternative sequence
342 – 393
Missing. In isoform 2, isoform 5 and isoform 8.
Alternative sequence
347 – 393
Missing. In isoform 3, isoform 6 and isoform 9.
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.
Mutagenesis
370 – 370
K -> R. Induces a decrease in methylation by SMYD2.
Mutagenesis
372 – 372
K -> R. Induces a decrease in protein stabilization.
Mutagenesis
373 – 373
K -> R. Abolishes dimethylation by EHMT1 and EHMT2.
Mutagenesis
381 – 381
K -> Q. Mimics acetylation, leading to increased stability.
Mutagenesis
381 – 381
K -> R. Decreased acetylation.
Mutagenesis
382 – 382
K -> A. Abolishes acetylation by CREBBP.
Mutagenesis
382 – 382
K -> R. Abolishes monomethylation by KMT5A.
Mutagenesis
383 – 383
L -> A. Abolishes S-315 phosphorylation by CDK2/cyclin A.
Mutagenesis
385 – 385
F -> A. Reduced SUMO1 conjugation.
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.