Fig. 1: Family trees and visual representation of ARFGEF1 variants on a protein model. | Genetics in Medicine

Fig. 1: Family trees and visual representation of ARFGEF1 variants on a protein model.

From: Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Fig. 1

(a) Family trees from individuals with ARFGEF1 variants. Squares represent males and circles females. Individuals with heterozygous ARFGEF1 variants are indicated with a +, while − indicates absence of a variant. UN DNA unavailable for family segregation of the variant. Index cases are shown with a black arrow. (b) Schematic representation of ARFGEF1 protein showing the variants identified in this study. All domains are positioned and adapted as previously described4. Missense variants are shown in black and truncating in red.

Back to article page