Variant position: 331 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 KADMRRQDSRGNTVLHALVA IADNTRENTKFVTKMYDLLLL
Mouse KADMRRQDSRGNTVLHALVA IADNTRENTKFVTKMYDLLLL
Rat KADMRRQDSRGNTVLHALVA IADNTRENTKFVTKMYDLLLL
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 – 465 Cytoplasmic
324 – 331
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D.; Vriens J.; Camacho N.; Luong P.; Deixler H.; Funari T.L.; Bacino C.A.; Irons M.B.; Holm I.A.; Sadler L.; Okenfuss E.B.; Janssens A.; Voets T.; Rimoin D.L.; Lachman R.S.; Nilius B.; Cohn D.H.;
Am. J. Hum. Genet. 84:307-315(2009)
Cited for: VARIANTS SMDK GLY-333; HIS-594 AND SER-716; VARIANTS MTD PHE-331 AND LEU-799;
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
Camacho N.; Krakow D.; Johnykutty S.; Katzman P.J.; Pepkowitz S.; Vriens J.; Nilius B.; Boyce B.F.; Cohn D.H.;
Am. J. Med. Genet. A 152:1169-1177(2010)
Cited for: VARIANTS MTD ILE-89; ARG-197; PHE-331; PHE-471 DEL; MET-604; LEU-617; PRO-618; LYS-797 AND LEU-799;
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.