UniProtKB/Swiss-Prot P04637: Variant p.Gly334Val

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

334 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 Glycine (G) to Valine (V) at position 334 (G334V, p.Gly334Val). 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 glycine (G) to medium size and hydrophobic (V) 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 sporadic cancers; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

334 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:

SSPQPKKKPLDGEYFTLQIR G RERFEMFRELNEALELKDAQ 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                         SSPQPK--KKPL----DGEYFTLQIRGRERFEMFRELNEALELKDAQ

                              SSPPQK--KKPL----DGEYFTLQIRGRERYEMFRNLNEAL

Rhesus macaque                SSPQPK--KKPL----DGEYFTLQIRGRERFEMFRELNEAL

Mouse                         ASPPQK--KKPL----DGEYFTLKIRGRKRFEMFRELNEAL

Rat                           SSPQQK--KKPL----DGEYFTLKIRGRERFEMFRELNEAL

Pig                           SSPVQK--KKPL----DGEYFTLQIRGRERFEMFRELNDAL

Bovine                        SSPQPK--KKPL----DGEYFTLQIRGFKRYEMFRELNDAL

Rabbit                        SSPQTK--KKPL----DGEYFILKIRGRERFEMFRELNEAL

Sheep                         SSPQQK--KKPL----DGEYFTLQIRGRKRFEMFRELNEAL

Cat                           STPPQK--KKPL----DGEYFTLQIRGRERFEMFRELNEAL

Chicken                       APEPPK--KRVL--NPDNEIFYLQVRGRRRYEMLKEINEAL

Xenopus laevis                -PPLPK--KRLVVVDDDEEIFTLRIKGRSRYEMIKKLNDAL

Zebrafish                     ATLRPEGSKKAKGSSSDEEIFTLQVRGRERYEILKKLNDSL

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
Modified residue	315 – 315	Phosphoserine; by AURKA, CDK1 and CDK2
Modified residue	321 – 321	N6-acetyllysine
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	332 – 341	IRGRERFEMF -> DQTSFQKENC. In isoform 2, isoform 5 and isoform 8.
Mutagenesis	319 – 319	K -> A. Loss of nuclear localization; when associated with A-320 and A-321.
Mutagenesis	320 – 320	K -> A. Loss of nuclear localization; when associated with A-319 and A-321.
Mutagenesis	321 – 321	K -> A. Loss of nuclear localization; when associated with A-319 and A-320.
Mutagenesis	333 – 337	RGRER -> KGKEK. Reduced methylation by PRMT5. Reduced nuclear localization. Decreased binding to promoters of target genes. Reduced transcriptional activity. Decrease in cell cycle arrest.
Beta strand	327 – 334

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.