Fig. 1: Heterozygous truncating variant in IMPDH2 segregates in the family.
From: IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder
A Pedigree of the family. Red symbols: patients. Asterisk: individuals genetically studied for IMPDH2 variant. B Schematic presentation of exome data analysis and variant filtering. Variants found in 15 or less patients in our in-house database (532 patients) with an impact rating of high or moderate effect were selected for further analysis. Criteria 1–5 decribed in the Methods. C IMPDH2 sequence at the deletion site (arrowhead). D Graphical representation of the deletion consequences for the protein. Red rectangle: deletion site; Arrow: early termination codon; CBS, cystathione-beta-synthase domains. E IMPDH2 protein sequence conservations at tyrosine-32, multiple sequence alignment. Arrow, ___location of the early stop codon.
