Fig. 1
From: A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy
Pedigree, sequencing chromatograms, and conservation analysis. a Pedigrees of FC26 (left) and FC355 families (right). Genotypes of MPV17 c.122G> A mutation were indicated bottom of each examined individuals. The open symbols represent unaffected individuals and filled symbols represent affected individuals. Asterisks indicate samples whose DNA were used for WES. b Confirmation of the mutation by capillary sequencing method. Vertical arrows indicate the mutation site. c Conservation analysis of mutation site in MPV17. The mutation site (R41, yellow) and adjacent amino acid sequences are well conserved across species. R50 and transmembrane domains are indicated in green and gray colors, respectively (H. sapiens: NP_002428.1, M. musculus: NP_032648.1, R. norvegicus: NP_001091710.1, B. taurus: NP_001039394.1, G. gallus: XP_004935875.1, P. bivittatus: XP_007420911.1, X. laevis: AAH82223.1, and D. rerio: NP_957459.2)