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Table 3 Summary of possible pathogenic mutations

From: Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Gene Nucleotide change Amino acid change NCBI ID dbSNP135 Allele frequency in 1000GENOME Allele frequency in ESP6500 Allele frequency in Japanese control PolyPhen-2 prediction (score) PROVEAN prediction (score) Pathogenicity Family Reference
ACTG1 c.802G>A p.G268S NM_001199954.1 None - 0 0/192 Probably damaging (0.998 Deleterious (-4.504) Possible 1  
POU4F3 c.1007delC p.A336Vfs NM_002700.2 None - 0 0/192 - - Possible 2  
SLC26A5 c.390A>C p.R130S NM_198999.2 None - 0 0/192 Benign (0.443) Deleterious (-4.813) Possible 3  
SLC26A5 c.209G>A p.W70X NM_198999.2 None - 0 n.t*. - - Possible 3  
SIX1 c.328C>T p.R110W NM_005982.3 rs80356459 No info 0 n.t. Probably damaging (1.000) Deleterious (-7.775) Causative 4 35
MYO7A c.6478T>G p.W2160G NM_000260.3 None - 0 0/192 Probably damaging (1.000) Deleterious (-12.649) Possible 5  
MYO7A c.6439-2A>G (intron 51) Splice mutation NM_000260.3 None - 0 0/192   - Possible 5  
CDH23 c.719C>T p.P240L NM_022124.5 rs121908354 1/2183 0 n.t. Probably damaging (1.000) Deleterious (-3.051) Causative 6 43
PCDH15 c.848G>A p.R283H NM_001142763.1 None - 1/13005 0/192 Probably damaging (0.998) Neutral (-1.918) Possible 6  
USH2A c.12431delC p.A4144GfsX23 NM_206933.2 None - 0 0/190   - Possible 7  
  1. *n.t. = not tested