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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HBA0: Variant p.Val620Ile

Transient receptor potential cation channel subfamily V member 4
Gene: TRPV4
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Variant information Variant position: help 620
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Isoleucine (I) at position 620 (V620I, p.Val620Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help In BCYM3; results in a gain of function and a constitutive activation of the channel.
Other resources: help


Sequence information Variant position: help 620
Protein sequence length: help 871
Location on the sequence: help GTYSIMIQKILFKDLFRFLL V YLLFMIGYASALVSLLNPCA
Residue conservation: help 
Human                         GTYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCA

Mouse                         GTYSIMIQKILFKDLFRFLLVYLLFMIGYASALVTLLNPCT

Rat                           GTYSIMIQKILFKDLFRFLLVYLLFMIGYASALVTLLNPCT

Chicken                       GTYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 871 Transient receptor potential cation channel subfamily V member 4
Transmembrane 609 – 636 Helical
Helix 614 – 633



Literature citations
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock M.J.; Prenen J.; Funari V.A.; Funari T.L.; Merriman B.; Nelson S.F.; Lachman R.S.; Wilcox W.R.; Reyno S.; Quadrelli R.; Vaglio A.; Owsianik G.; Janssens A.; Voets T.; Ikegawa S.; Nagai T.; Rimoin D.L.; Nilius B.; Cohn D.H.;
Nat. Genet. 40:999-1003(2008)
Cited for: VARIANTS BCYM3 GLN-616 AND ILE-620; CHARACTERIZATION OF VARIANTS BCYM3 GLN-616 AND ILE-620; FUNCTION; TRANSPORTER ACTIVITY;
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.