Skip to main content
. 2016 Nov 24;2016:1512831. doi: 10.1155/2016/1512831

Table 1.

Variants of POU4F3 related to DFNA 15.

Description Exon Amino acid change Type of variant Ethnicity Reference
c.884del8 2
Ile295Thrfs5 Frameshift Jewish Vahava et al. (1998) [14]
c.668T>C 2 Leu223Pro Missense Dutch Collin et al. (2008) [10]
c.865C>T 2 Leu289Phe Missense Dutch Collin et al. (2008) [10]
c.662del14 2 Gly221Glufs77 Frameshift Korean Lee et al. (2010) [13]
c.694G>A 2 Glu232Lys Missense Korean Baek et al. (2012) [9]
c.977G>A 2 Arg326Lys Missense Korean Kim et al. (2013) [12]
c.603_604delGG 2 Val203Aspfs11 Frameshift Chinese Yang et al. (2013) [16]
Deletion of entire gene 2 Deletion Brazilian Freitas et al. (2014) [11]
c.491C>G 2 Pro164Arg Missense Chinese Wei et al. (2014) [15]
c.337C>T 2 Gln113 Nonsense Chinese This study