Fig. 3

Identification of a missense mutation in TPM2 in Family 1. a Genetic linkage analysis was carried out with 3 microsatellites, and TPM2 was identified as the candidate gene. b Sequencing results indicate the heterozygous mutation c.308A > G in exon 3 of TPM2. c DNA fragments from the affected individuals (II5, III1, III3, IV1, and IV4). Three fragments were separated by electrophoresis (394 bp, 264 bp, and 130 bp). d Multiple-species sequence alignment shows the evolutionary conservation of position p.Q103 in TPM2. e The schematic of TPM2 mutation spectrum on functional module. Mutation-related diseases are exhibited in different literal colors