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Table 1 Genotypes of patients with mutations in the GJB2 gene

From: Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Allele 1 Allele 2  
Nucleotide Change Consequence or amino acid change Category Nucleotide change Consequence or amino acid change Category Number of patients
c.235delC Frameshift Pathogenic c.235delC Frameshift Pathogenic 31
c.235delC Frameshift Pathogenic c.299_300delAT Frameshift Pathogenic 8
c.235delC Frameshift Pathogenic c.176_191del16 Frameshift Pathogenic 5
c.235delC Frameshift Pathogenic c.257C>G T86R TM2 Pathogenic 1
c.560_605ins46 Frameshift Pathogenic c.560_.605ins46 Frameshift Pathogenic 1
c.299_300delAT Frameshift Pathogenic c.176_191del16 Frameshift Pathogenic 4
c.176_191del16 Frameshift Pathogenic c.176_191del16 Frameshift Pathogenic 1
c.223C>T R75W EC1
Autosomal dominant
aPathogenic
PPK
c.79G>A, c.341A>G V27I, E114G Polymorphism 1
c.235delC Frameshift Pathogenic -    20
c.299_300delAT Frameshift Pathogenic -    6
c.155_158delTCTG Frameshift Pathogenic -    1
c.592G>A bV198M TM4 Novel c.79G>A, c.341A>G V27I, E114G Polymorphism 2
c.187G>T bV63L EC1 Reported -    1
c.458T>C bV153AEC2 Novel c.608T>C I203T Polymorphism 1
c.109G>A cV37I, TM1 cSee note -    2
c.109G>A cV37I cSee note c.79G>A, c.341A>G V27I, E114G Polymorphism 1
c.79G>A, c.341A>G V27I, E114G IC2 Polymorphism -    42
c.79G>A, c.341A>G V27I, E114G Polymorphism c.79G>A, c.341A>G V27I, E114G Polymorphism 2
c.341A>G E114G Polymorphism -    1
c.79G>A V27I TM1 Polymorphism -    8
c.79G>A V27I Polymorphism c.79G>A V27I Polymorphism 1
  1. TM, transmembrane domain; EC, extracellular domain; IC, intracellular domain.