UniProtKB/Swiss-Prot P04637 : Variant p.Ser366Ala
Cellular tumor antigen p53
Gene: TP53
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Variant information
Variant position:
366
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 Serine (S) to Alanine (A) at position 366 (S366A, p.Ser366Ala).
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 small size and polar (S) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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:
In a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
366
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:
EALELKDAQAGKEPGGSRAH
S SHLKSKKGQSTSRHKKLMFK
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 EALELKDAQAGKEPGGSRAH---S SHLKSKKGQSTSRHKKLMFK
EALELKDAQSGKEPGGSRAH---S SHLKAKKGQSTSRHKKL
Rhesus macaque EALELKDAQAGKEPAGSRAH---S SHLKSKKGQSTSRHKKF
Mouse EALELKDAHATEESGDSRAH---S SYLKTKKGQSTSRHKKT
Rat EALELKDARAAEESGDSRAH---S SYPKTKKGQSTSRHKKP
Pig DALELKDAQTARESGENRAH---S SHLKSKKGQSPSRHKKP
Bovine DALELKDALDGREPGESRAH---S SHLKSKKRPSPSCHKKP
Rabbit EALELKDAQAEKEPGGSRAH---S SYLKAKKGQSTSRHKKP
Sheep EALELMDAQAGREPGESRAH---S SHLKSKKGPSPSCHKKP
Cat EALELKDAQSGKEPGGSRAH---S SHLKAKKGQSTSRHKKP
Chicken EALQLAEGGSAPRPS--------K GRRVKVEGPQPSCGKKL
Xenopus laevis DALELQESLDQQKVT--------I KCRKCRDEIKPKKGKKL
Zebrafish DSLELSDVVPASDAEKYRQKFMTK NKKENRESSEPKQGKKL
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
Compositional bias
366 – 380
Basic residues
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
Cross
386 – 386
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
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.
Mutagenesis
386 – 386
K -> A. Abolishes SUMO1 conjugation, in vitro and in vivo.
Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-47; LYS-339 AND ALA-366;
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.