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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HBA0: Variant p.Arg594His

Transient receptor potential cation channel subfamily V member 4
Gene: TRPV4
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Variant information Variant position: help 594 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Histidine (H) at position 594 (R594H, p.Arg594His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SMDK and PSTD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 594 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 871 The length of the canonical sequence.
Location on the sequence: help YLAVMVFALVLGWMNALYFT R GLKLTGTYSIMIQKILFKDL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YLAVMVFALVLGWMNALYFTRGLKLTGTYSIMIQKILFKDL

Mouse                         YLAVMVFALVLGWMNALYFTRGLKLTGTYSIMIQKILFKDL

Rat                           YLAVMVFALVLGWMNALYFTRGLKLTGTYSIMIQKILFKDL

Chicken                       YLAVMVFALVLGWMNALYFTRGLKLTGTYSIMIQKILFKDL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 871 Transient receptor potential cation channel subfamily V member 4
Topological domain 594 – 608 Cytoplasmic



Literature citations
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; Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G.; Dai J.; Lausch E.; Unger S.; Megarbane A.; Kitoh H.; Kim O.H.; Cho T.J.; Bedeschi F.; Benedicenti F.; Mendoza-Londono R.; Silengo M.; Schmidt-Rimpler M.; Spranger J.; Zabel B.; Ikegawa S.; Superti-Furga A.;
Am. J. Med. Genet. A 152:1443-1449(2010)
Cited for: INVOLVEMENT IN SEDM; VARIANT PSTD HIS-594; VARIANTS LYS-183; CYS-602; LYS-797 AND LEU-799; 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.