UniProtKB/Swiss-Prot P04637 : Variant p.Gln354Arg
Cellular tumor antigen p53
Gene: TP53
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Variant information
Variant position:
354
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 Glutamine (Q) to Arginine (R) at position 354 (Q354R, p.Gln354Arg).
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 (Q) to large size and basic (R)
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 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:
354
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:
GRERFEMFRELNEALELKDA
Q AGKEPGGSRAHSSHLKSKKG
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 GRERFEMFRELNEALELKDAQ AGKEPGGSRAH---SSHLKSKKG
GRERYEMFRNLNEALELKDAQ SGKEPGGSRAH---SSHLKA
Rhesus macaque GRERFEMFRELNEALELKDAQ AGKEPAGSRAH---SSHLKS
Mouse GRKRFEMFRELNEALELKDAH ATEESGDSRAH---SSYLKT
Rat GRERFEMFRELNEALELKDAR AAEESGDSRAH---SSYPKT
Pig GRERFEMFRELNDALELKDAQ TARESGENRAH---SSHLKS
Bovine GFKRYEMFRELNDALELKDAL DGREPGESRAH---SSHLKS
Rabbit GRERFEMFRELNEALELKDAQ AEKEPGGSRAH---SSYLKA
Sheep GRKRFEMFRELNEALELMDAQ AGREPGESRAH---SSHLKS
Cat GRERFEMFRELNEALELKDAQ SGKEPGGSRAH---SSHLKA
Chicken GRRRYEMLKEINEALQLAEGG SAPRPS--------KGRRVK
Xenopus laevis GRSRYEMIKKLNDALELQESL DQQKVT--------IKCRKC
Zebrafish GRERYEILKKLNDSLELSDVV PASDAEKYRQKFMTKNKKEN
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
319 – 360
Interaction with HIPK2
Region
325 – 356
Oligomerization
Region
351 – 393
Disordered
Modified residue
335 – 335
Symmetric dimethylarginine; by PRMT5
Modified residue
337 – 337
Symmetric dimethylarginine; by PRMT5
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
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.
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.