The effects of known EYA4 mutations on the EYA4 protein structure and on the cardiac phenotype.
Fei Liu
Jiongjiong Hu
Wenjun Xia
Lili Hao
Jing Ma
Duan Ma
Zhaoxin Ma
10.1371/journal.pone.0126602.g005
https://plos.figshare.com/articles/figure/_The_effects_of_known_EYA4_mutations_on_the_EYA4_protein_structure_and_on_the_cardiac_phenotype_/1410022
<p>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.</p>
2015-05-11 03:08:45
wes
Missense mutation
novel EYA 4 mutation
171R
Exome Sequencing Identifies
snhl
EYA 4 gene
EYA 4 mutations
EYA 4
Polymerase Chain Reaction Amplification
sensorineural hearing loss
region
deafness susceptibility genes
EYA 4 function
.511G