10.1371/journal.pone.0126602.g003
Fei Liu
Fei
Liu
Jiongjiong Hu
Jiongjiong
Hu
Wenjun Xia
Wenjun
Xia
Lili Hao
Lili
Hao
Jing Ma
Jing
Ma
Duan Ma
Duan
Ma
Zhaoxin Ma
Zhaoxin
Ma
Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss - Fig 3
Public Library of Science
2015
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
2015-05-11 03:08:45
Figure
https://plos.figshare.com/articles/figure/_Exome_Sequencing_Identifies_a_Mutation_in_EYA4_as_a_Novel_Cause_of_Autosomal_Dominant_Non_Syndromic_Hearing_Loss_Fig_3_/1410020
<p>(A) Read coverage of each chromosome and mutation loci statistical results of the patients and of the normal control; (B) DNA sequence chromatograms presenting the two heterozygous missense mutations c.511G>C; p.G171R in affected individuals (upper panel) compared with the wild-type controls (lower panel). (C) The structure of the EYA4 gene. The EYA4 gene has 20 exons. The c.511G>C; p.G171R mutation identified in the EYA4 gene is in exon 8. The conservation analysis indicates that the Gly residue at 171 in the EYA4 protein is not conserved across <i>Homo sapiens</i>, <i>Pan troglodytes</i>, <i>Macaca mulatta</i>, <i>Mus musculus</i>, <i>Gallus gallus</i>, <i>Takifugu rubripes</i>, <i>Danio rerio</i> and <i>Xenopus tropicalis</i>.</p>