Fig. 1 | European Journal of Human Genetics

Fig. 1

From: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Fig. 1

Schematic representation of the KIF1A protein with variants in dominant spastic paraplegia. Variants identified in this study are depicted above the schematic protein, isoform NP_004312.2, while previously described variants in autosomal dominant spastic paraplegia [11,12,13, 15, 29,30,31,32] are shown below the schematic. Protein domains are according to UniProt consortium (https://www.uniprot.org), with kinesin motor, cc coiled coil, FHA forkhead-associated, PH pleckstrin homology domains. aThis family has been described [15]

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