Figure 1.

Schematic diagram of KIF1A protein illustrating functional domains and mutations reported to date (more information in the main text). Kinesin motor domain 3–362 aa, low complexity domains (LC); 402–420, 684–697, 753–769, 981–994, 1415–1435, 1533–1540 aa, (only 402–420 is depicted for limited space), coiled coil domain (CC) 429–462, 625–672 aa, forkhead-associated domain (FHA) 515–572 aa. The regions extending beyond this figure are represented by dotted lines. (A) Mutations are color coded according to inheritance pattern and clinical severity, with de novo in black and recessive in blue. De novo mutations identified specifically in this study are shown by asterisk. T99M has been previously reported and occurred twice with the same nucleotide and predicted amino acid change in our cohort. It is located within the ATP-binding cassette of the kinesin motor domain. (B) Mutations reported as rare polymorphic variants in a control cohort based on data from the Exome Variant Server (http://evs.gs.washington.edu/EVS/) are shown in gray.