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UniProtKB/Swiss-Prot Q9H5I5: Variant p.Val2463Ile

Piezo-type mechanosensitive ion channel component 2
Gene: PIEZO2
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Variant information Variant position: help 2463
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 2463 (V2463I, p.Val2463Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 2463
Protein sequence length: help 2752
Location on the sequence: help ITLGGYQPIFTMSAQQSQLK V MDQQSFNKFIQAFSRDTGAM
Residue conservation: help
Human                         ITLGGYQPIFTMSAQQSQLKVMDQQSFNKFIQAFSRDTGAM

Mouse                         ITLGGYQPIFTMSAQQSQLKVMDNSKYNEFLKSFGPNSGAM

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2752 Piezo-type mechanosensitive ion channel component 2
Topological domain 2427 – 2661 Extracellular



Literature citations
A role for Fam38b in mechanical hypersensitivity.
Eijkelkamp N.; Cox J.; Torres J.M.; Sang H.G.; Wood J.N.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ILE-1354 AND ILE-2463;
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