Variant position: 270 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 871 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 CKHYVELLVAQGADVHAQAR GRFFQPKDEGGYFYFGELPLS
Mouse CKHYVELLVAQGADVHAQAR GRFFQPKDEGGYFYFGELPLS
Rat CKHYVELLVAQGADVHAQAR GRFFQPKDEGGYFYFGELPLS
Chicken CKHYVELLVEKGADVHAQAR GRFFQPKDEGGYFYFGELPLS
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 – 871 Transient receptor potential cation channel subfamily V member 4
1 – 469 Cytoplasmic
253 – 253 Phosphotyrosine
239 – 285 Missing. In isoform 4 and isoform 6.
251 – 251 K -> E. No effect on channel activity. No effect on interaction with membranes enriched in phosphatidylinositol-2,4-bisphosphate.
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; SUBCELLULAR LOCATION; GLYCOSYLATION;
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.