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Table 2 Mutations identified in 7 families

From: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Family ID Gene DFN locus Nucleotide change Variation type Amino acid change Chromosome/exon Mutation taster PROVEANa SIFTb Allele frequency in controls Novel or HGMD
Dominant            
JSNY-021 WFS1 DFNA6/14/38 c.2036_2038 In-frame indel p.E680del 4/8 DCc - - 0.00 Novel
delAGG
JSNY-027 COCH DFNA9 c. 113G > A Missense p.G38D 14/4 DC −1.431 0.00 0.00 Novel
JSNY-033 WFS1 DFNA6/14/38 c.1957C > T Missense p.R653C 4/8 DC −3.501 0.98 0.00 Awata et al. [14]
JSNY-043 ACTG1 DFNA20/26 c.946G > A Missense p.E316K 17/5 DC −2.648 0.01 0.00 Novel
JSNY-053 TMC1 DFNA36 c.1714G > A Missense p.D572N 9/19 DC −2.499 0.21 0.00 Kurima et al. [15]
JSNY-056 POU4F3 DFNA15 c.491 C > G Missense p.P164R 5/2 DC −2.112 0.34 0.00 Novel
Recessive            
JSNY-045 USH2A 1q41 c.5051G > A Missense p.P1684L 1/25 DC −4.567 0.00 0.00 Novel
  1. aNegative and positive scores indicate deleterious and neutral, respectively, with cut-off score set at −1.3; bScore ranges from 0 (deleterious) to 1 (neutral), with cut-off score set at 0.05. cDC: Disease causing.