p.M305T mutation in ACTG1. The p.M305T mutation reported in this study as well as several other previously reported mutations in ACTG1 cause hearing loss (A). p.M305T (arrow), confirmed by Sanger sequencing, co-segregated perfectly with hearing loss (asterisk: synonymous SNV) (B). Met305 is located close to the ATP binding site of ACTG1 (C).
Park et al. BMC Genomics 2013 14:191 doi:10.1186/1471-2164-14-191