Fig. 1. Identification of RAB40B mutation in family with axonal neuropathic phenotype. (A) Pedigree of a CMT family (FC162) in which nonsense mutation of RAB40B was identified. Affected members are indicated by black boxes and circles. Genotypes of RAB40B c.249C>A are provided at the bottom of all the examined individuals. (B) Chromatograms of mutation sites. Black and red arrows indicate mutation site of rs781464100 (c.249C>A, p.Y83X). (C) Amino acid sequence alignment between human RAB40B and zebrafish and Drosophila homologs. The Rab40-characteristic SOCS domain is highlighted by yellow boxes. Position of the nonsense mutation (p.Y83X) is indicated by red letters.
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