Figure 1
CHD7 rare sequencing variants identified in congenital hypogonadotropic hypogonadism probands. (a) Schematic of the CHD7 protein (1-2997 amino acid) and locations of identified rare sequencing variants (RSVs). Pathogenic or likely pathogenic RSVs according to American College of Medical Genetics and Genomics guidelines are noted in red. The functional domains of CHD7 in both (a) and (b) are noted as follows: blue, chromodomain 1; green, chromodomain 2; yellow, helicase N; pink, helicase C; purple, BRK. (b) Structural model of CHD7 chromo- and helicase domains. The location of RSVs is indicated by arrows. The ATP-binding domain is depicted in cyan (located in the helicase N-lobe).
