Table 9.

Notable TRPV4 Pathogenic Variants

Reference SequencesPredominant PhenotypeDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_021625​.4
NP_067638​.3 		Neuromuscularc.557G>Ap.Arg186GlnSee Genotype-Phenotype Correlations
[Auer-Grumbach et al 2010, Deng et al 2010, Landouré et al 2010, Klein et al 2011, Landouré et al 2012].
c.694C>Tp.Arg232Cys 1
c.710G>Tp.Arg237Leu
c.805C>Tp.Arg269Cys
c.806G>Ap.Arg269His
c.943C>Tp.Arg315Trp
c.946C>Tp.Arg316Cys
c.947G>Ap.Arg316His
SkeletalNANATwo mutation hot spots identified. See Genotype-Phenotype Correlations [Nishimura et al 2012].
Familial digital arthropathy-brachydactylyc.809G>Tp.Gly270ValSee Genotype-Phenotype Correlations [Nilius & Voets 2013].
c.812G>Cp.Arg271Pro
c.819C>Gp.Phe273Leu

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Denotes a combined neuromuscular and skeletal phenotype

From: Autosomal Dominant TRPV4 Disorders

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