Fig. 2
From: Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
Distribution of TRPV6 mutations. Arrows indicate the reported mutations in THNP. Mutation hot spots are in the fourth ankyrin repeat domain (AR4) (filled square) and second transmembrane domain (S2) (open square). The novel mutations, pGly291Ser and p.Arg390His, localize to the AR6 and S1 domain, respectively. The p.Gly451Glu mutation is found on the S2–S3 loop, which is reported to play a role in [Ca2+]i-dependent inactivation [11]