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:
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 AGKFSLIPTIINLATALTSV GVGSFLCDWILLTFMNKNKVY
Mouse AGKFSLIPTIINLATALTSI GVGSFLCDWILLTFMNKNKLY
Rat AGKFSLIPTIINLATALTSI GVGSFLCDWILLTFMNKNKLY
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
1 – 471 P2X purinoceptor 2
338 – 358 Helical; Name=2
21 – 439
354 – 354 V -> VVRNPLWGPSGCGGSTRPLHTGLCWPQ. In isoform D.
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.;
Cited for: VARIANT DFNA41 ARG-353;
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