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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HBA0: Variant p.Pro799Ser

Transient receptor potential cation channel subfamily V member 4
Gene: TRPV4
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Variant information Variant position: help 799
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 799 (P799S, p.Pro799Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In MTD.
Other resources: help


Sequence information Variant position: help 799
Protein sequence length: help 871
Location on the sequence: help RVDEVNWSHWNQNLGIINED P GKNETYQYYGFSHTVGRLRR
Residue conservation: help 
Human                         RVDEVNWSHWNQNLGIINEDPGKNETYQYYGFSHTVGRLRR

Mouse                         RVDEVNWSHWNQNLGIINEDPGKSEIYQYYGFSHTVGRLRR

Rat                           RVDEVNWSHWNQNLGIINEDPGKSEIYQYYGFSHTMGRLRR

Chicken                       RVDEVNWSHWNQNLGIISEDPGKSDTYQYYGFSHTVGRLRR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 871 Transient receptor potential cation channel subfamily V member 4
Topological domain 723 – 871 Cytoplasmic
Modified residue 805 – 805 Phosphotyrosine



Literature citations
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Dai J.; Kim O.H.; Cho T.J.; Schmidt-Rimpler M.; Tonoki H.; Takikawa K.; Haga N.; Miyoshi K.; Kitoh H.; Yoo W.J.; Choi I.H.; Song H.R.; Jin D.K.; Kim H.T.; Kamasaki H.; Bianchi P.; Grigelioniene G.; Nampoothiri S.; Minagawa M.; Miyagawa S.I.; Fukao T.; Marcelis C.; Jansweijer M.C.; Hennekam R.C.; Bedeschi F.; Mustonen A.; Jiang Q.; Ohashi H.; Furuichi T.; Unger S.; Zabel B.; Lausch E.; Superti-Furga A.; Nishimura G.; Ikegawa S.;
J. Med. Genet. 47:704-709(2010)
Cited for: VARIANTS MTD PHE-199; ALA-295; THR-331; PHE-342; PHE-471 DEL; LEU-592; LYS-775; ALA-799; SER-799; LEU-799 AND ARG-799; VARIANTS SMDK LYS-278; HIS-594; PRO-596; TRP-600; ILE-625; MET-709; TYR-777 AND LYS-797;
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.