Fig. 2
From: Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
Identification of novel homozygous variants thought to be the underlying causes of CMT. a Sequencing chromatograms of c.2599C > T and c.3650G > A in SH3TC2, c.19C > T in HK1, c.247delG in REEP1, and c.334G > A in MFN2. b Conservation of two missense mutation sites. The amino acids at the mutation sites are highly conserved among vertebrate species. c Domain structure and location of the mutations of SH3TC2, and MFN2. The p.Gly1217Asp in SH3TC2, and the p.Val112Met in MFN2 are located in the tetratricopeptide repeats (TPR) and GTPase domains, respectively