Fig. 2

Sanger sequence analysis of affected gene sequences. Representative electrophergram results of partial sequence of exons 15 and 16 of NTRK1 and exon 7 of SCN9A. A. Homozygous c.1860-1861insT mutation in NTRK1 in the affected proband B. Heterozygous c.1860-1861insT mutation in the family members. C. Wild type normal control for c.1860-1861insT mutation. D. Homozygous c.2170 G > A mutation in NTRK1 gene in the affected proband E. Heterozygous c.2170 G > A mutation in the family members. F. Wild type normal control for c.2170 G > A mutation. G. Homozygous c.901 A > T mutation in the SCN9A gene in affected proband (H) Heterozygous c.901 A > T mutation in the family members. Letters under the electropherograms represent the amino acids encoded by the sequenced area of the genes. Arrows indicate the mutated nucleotide. (I) Amino acid conservation of NTRK1 protein segment surrounding G724. Conservation predicted using Gremlin webserver [25] and figure was generated using WebLogo [26]