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. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312

Figure 1. Identification of TRPV4 homozygous mutation.

Figure 1

(A) Pedigree of the family of the affected patient; the proband is indicated by the arrow. (B) Sanger sequencing pherograms show homozygosity for c.281C>T in TRPV4 in the proband and heterozygosity in both parents. The position of the variant is marked as *. (C) Protein sequence alignment of TRPV4 orthologs showing conservation in the region including p.S94L in higher vertebrates. (D) Schematic diagram of the TRPV4 protein demonstrating localization of p.S94L on the N-terminal intracellular region. Numbers 1–6 correspond to the 6 ankyrin repeats.