UniProtKB/Swiss-Prot P04637: Variant p.Asp352His

Cellular tumor antigen p53
Gene: TP53
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Variant information Variant position:

352 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 Aspartate (D) to Histidine (H) at position 352 (D352H, p.Asp352His). 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 acidic (D) to medium size and polar (H) 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 sporadic cancer; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

352 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:

IRGRERFEMFRELNEALELK D AQAGKEPGGSRAHSSHLKSK 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                         IRGRERFEMFRELNEALELKDAQAGKEPGGSRAH---SSHLKSK

                              IRGRERYEMFRNLNEALELKDAQSGKEPGGSRAH---SSHL

Rhesus macaque                IRGRERFEMFRELNEALELKDAQAGKEPAGSRAH---SSHL

Mouse                         IRGRKRFEMFRELNEALELKDAHATEESGDSRAH---SSYL

Rat                           IRGRERFEMFRELNEALELKDARAAEESGDSRAH---SSYP

Pig                           IRGRERFEMFRELNDALELKDAQTARESGENRAH---SSHL

Bovine                        IRGFKRYEMFRELNDALELKDALDGREPGESRAH---SSHL

Rabbit                        IRGRERFEMFRELNEALELKDAQAEKEPGGSRAH---SSYL

Sheep                         IRGRKRFEMFRELNEALELMDAQAGREPGESRAH---SSHL

Cat                           IRGRERFEMFRELNEALELKDAQSGKEPGGSRAH---SSHL

Chicken                       VRGRRRYEMLKEINEALQLAEGGSAPRPS--------KGRR

Xenopus laevis                IKGRSRYEMIKKLNDALELQESLDQQKVT--------IKCR

Zebrafish                     VRGRERYEILKKLNDSLELSDVVPASDAEKYRQKFMTKNKK

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	333 – 333	Omega-N-methylarginine; by PRMT5
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
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.
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.