Fig. 2
From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
Mutation detection and conservation analysis. a GJB2 mutation analysis. Sequencing results show that the homozygous c.109G > A was found in III:2 and that the parents exhibited heterozygous c.109G > A. b ACTG1 mutation analysis. Sequencing results show that heterozygous c.638A > G was found in all affected family members and that wild-type ACTG1 was found in the unaffected members. c Protein alignment shows conservation of the K213 residue ofACTG1 across 15 species