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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 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.

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