Skip to main content
. 2017 Apr 25;54(9):624–632. doi: 10.1136/jmedgenet-2016-104200

Figure 3.

Figure 3

Disease-causing missense mutations in Jouberin. (A) Localisation of the missense mutations in Jouberin. Open box depicts coiled coin domain, light grey boxes depict the seven repeats of the WD40 domain and the dark grey box depicts the SH3 domain. Missense variants detected in patients with non-syndromic retinitis pigmentosa are depicted in the upper part, while missense variants detected in JBTS patients are depicted in the bottom part. (B) Predicted effect of the amino acid change of non-syndromic RP (p.His696Arg, p.Pro697Leu, p.Asp753Val and p.Pro810Leu) and JBTS missense variants (p.Asp719Gly and p.Trp725Arg) in a protein homology model of the WD40 domain of Jouberin. In green the wild-type amino acids, in magenta the amino acid changes of a non-syndromic RP-associated missense variants and in cyan the amino acid changes of a JBTS-associated missense variants are depicted. JBTS, Joubert syndrome; RP, retinitis pigmentosa.