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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HBA0: Variant p.Gly270Val

Transient receptor potential cation channel subfamily V member 4
Gene: TRPV4
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Variant information Variant position: help 270
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Valine (V) at position 270 (G270V, p.Gly270Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In FDAB; poorly expressed on the cell surface; mutant channels show a significantly reduced response to agonists.
Other resources: help


Sequence information Variant position: help 270
Protein sequence length: help 871
Location on the sequence: help CKHYVELLVAQGADVHAQAR G RFFQPKDEGGYFYFGELPLS
Residue conservation: help 
Human                         CKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLS

Mouse                         CKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLS

Rat                           CKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLS

Chicken                       CKHYVELLVEKGADVHAQARGRFFQPKDEGGYFYFGELPLS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 871 Transient receptor potential cation channel subfamily V member 4
Topological domain 1 – 469 Cytoplasmic
Modified residue 253 – 253 Phosphotyrosine
Alternative sequence 239 – 285 Missing. In isoform 4 and isoform 6.
Mutagenesis 251 – 251 K -> E. No effect on channel activity. No effect on interaction with membranes enriched in phosphatidylinositol-2,4-bisphosphate.



Literature citations
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Lamande S.R.; Yuan Y.; Gresshoff I.L.; Rowley L.; Belluoccio D.; Kaluarachchi K.; Little C.B.; Botzenhart E.; Zerres K.; Amor D.J.; Cole W.G.; Savarirayan R.; McIntyre P.; Bateman J.F.;
Nat. Genet. 43:1142-1146(2011)
Cited for: VARIANTS FDAB VAL-270; PRO-271 AND LEU-273; CHARACTERIZATION OF VARIANTS FDAB VAL-270; PRO-271 AND LEU-273; FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; GLYCOSYLATION;
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.