Fig. 3From: Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3Schematic representation of PIP5K1C variants identified to date. The structure of PIP5K1C contained 18 exons (green rectangles) and introns (grey horizontal line). Lower side: the PIP5K1C protein domains: PIPK domain (76-449aa). The localization of variants and substitutions identified is depicted with dots. Black: Variants reported in the literature or ClinVar database; Red: Novel variants identified in this studyBack to article page