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UniProtKB/Swiss-Prot Q9UBL9: Variant p.Gly353Arg

P2X purinoceptor 2
Gene: P2RX2
Chromosomal location: 12q24.33
Variant information

Variant position:  353
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Arginine (R) at position 353 (G353R, p.Gly353Arg).
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 large size and basic (R)
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

Involvement in disease:  Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]: A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO:0000269|PubMed:23345450, ECO:0000269|PubMed:24211385}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In DFNA41.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  353
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  471
The length of the canonical sequence.

Location on the sequence:   AGKFSLIPTIINLATALTSV  G VGSFLCDWILLTFMNKNKVY
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                         AGKFSLIPTIINLATALTSVGVGSFLCDWILLTFMNKNKVY

Mouse                         AGKFSLIPTIINLATALTSIGVGSFLCDWILLTFMNKNKLY

Rat                           AGKFSLIPTIINLATALTSIGVGSFLCDWILLTFMNKNKLY

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.

TypePositionsDescription
Chain 1 – 471 P2X purinoceptor 2
Transmembrane 338 – 358 Helical; Name=2
Disulfide bond 21 – 439
Alternative sequence 354 – 354 V -> VVRNPLWGPSGCGGSTRPLHTGLCWPQ. In isoform D.


Literature citations

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.
Faletra F.; Girotto G.; D'Adamo A.P.; Vozzi D.; Morgan A.; Gasparini P.;
Gene 534:236-239(2014)
Cited for: VARIANT DFNA41 ARG-353;

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.