Fig. 1

Schematic representation of the KIF1A protein with variants identified in KIF1A-related disorders. Variants identified in our cohorts are depicted below the protein schematic: red indicates variants identified in our ALS cohort; blue indicates variants in Project Mine; green indicates variants in ALSdb database. Previously reported variants are listed above the schematic, which are associated with SPG30 (including cases described as MRD9) (black), HSAN2 (blue), and multiple phenotypes (SPG30 and HSAN2) (purple). Details on the patients and variants are shown in Additional file 1: Table S2. Protein domains were determined according to UniProt (https://www.uniprot.org). Variants were annotated with reference to the canonical transcript NM_004321 (p.P886fs was only identified in transcript NM_001244008). Motor domain (amino acids 5–354); CC: coiled coil domains, CC1 (amino acids 366–383), CC2 (amino acids 429–462), CC3 (amino acids 622–681), CC4 (amino acids 801–822); FHA: Forkhead associated domain, amino acids 516–572; PH: pleckstrin homology domain, amino acids 1575–1673