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The effects of known EYA4 mutations on the EYA4 protein structure and on the cardiac phenotype.

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posted on 11.05.2015, 03:08 by Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma

The number of amino acids of each allele product is indicated. Mutations that truncate the C-terminal Eya domain are associated with DFNA10 hearing loss and with a normal cardiac phenotype, whereas E193 truncates the N-terminal variable region and results in hearing loss plus dilated cardiomyopathy. Asp171 is in the variable region domain, and patients with this mutation presented with hearing loss and a normal cardiac phenotype.