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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HBA0: Variant p.Arg269Cys

Transient receptor potential cation channel subfamily V member 4
Gene: TRPV4
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Variant information Variant position: help 269 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 Cysteine (C) at position 269 (R269C, p.Arg269Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CMT2C; increased agonist-induced channel activity; causes increased cell death; no effect on protein stability and ATP-binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 269 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 RCKHYVELLVAQGADVHAQA R GRFFQPKDEGGYFYFGELPL 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                         RCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPL

Mouse                         RCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPL

Rat                           RCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPL

Chicken                       RCKHYVELLVEKGADVHAQARGRFFQPKDEGGYFYFGELPL
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 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 Charcot-Marie-Tooth disease type 2C.
Landoure G.; Zdebik A.A.; Martinez T.L.; Burnett B.G.; Stanescu H.C.; Inada H.; Shi Y.; Taye A.A.; Kong L.; Munns C.H.; Choo S.S.; Phelps C.B.; Paudel R.; Houlden H.; Ludlow C.L.; Caterina M.J.; Gaudet R.; Kleta R.; Fischbeck K.H.; Sumner C.J.;
Nat. Genet. 42:170-174(2010)
Cited for: VARIANTS CMT2C CYS-269 AND HIS-269; CHARACTERIZATION OF VARIANTS CMT2C CYS-269 AND HIS-269; FUNCTION; TRANSPORTER ACTIVITY; TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
Klein C.J.; Shi Y.; Fecto F.; Donaghy M.; Nicholson G.; McEntagart M.E.; Crosby A.H.; Wu Y.; Lou H.; McEvoy K.M.; Siddique T.; Deng H.X.; Dyck P.J.;
Neurology 76:887-894(2011)
Cited for: VARIANTS CMT2C CYS-232 AND HIS-316; CHARACTERIZATION OF VARIANTS CMT2C CYS-232; CYS-269; HIS-269 AND HIS-316;
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.