Table 3. [KCNQ4 Pathogenic Variants Discussed in This GeneReview]. - GeneReviews®

DNA Nucleotide Change (Alias ¹)	Predicted Protein Change (Alias ¹)	Protein Domain	Population	Onset of Symptoms ²	Reference
c.211_223del13 (211del13)	p.Gln71ProfsTer64 (Q71fsTer134)	N-terminal cytoplasmic	Belgian	Adolescence	Coucke et al [1999]
c.211delC	p.Gln71SerfsTer68 (FS71)	N-terminal cytoplasmic	Japanese	Adolescence	Kamada et al [2006], Ishikawa et al [2014]
c.827G>C	p.Trp276Ser	P-loop	Dutch, Japanese	Childhood	Coucke et al [1999], Van Camp et al [2002], Topsakal et al [2005]
c.853G>T	p.Gly285Cys	P-loop	North American	Childhood	Coucke et al [1999]
c.853G>A	p.Gly285Ser	P-loop	Northern European, Han Chinese	Childhood	Kubisch et al [1999], Wang et al [2014]

DNA Nucleotide Change
(Alias ¹)

Predicted Protein Change
(Alias ¹)

Protein Domain

Population

Onset of Symptoms ²

Reference

c.211_223del13
(211del13)

p.Gln71ProfsTer64
(Q71fsTer134)

N-terminal cytoplasmic

Belgian

Adolescence

Coucke et al [1999]

c.211delC

p.Gln71SerfsTer68
(FS71)

N-terminal cytoplasmic

Japanese

Adolescence

Kamada et al [2006], Ishikawa et al [2014]

c.827G>C

p.Trp276Ser

P-loop

Dutch, Japanese

Childhood

Coucke et al [1999], Van Camp et al [2002], Topsakal et al [2005]

c.853G>T

p.Gly285Cys

P-loop

North American

Childhood

Coucke et al [1999]

c.853G>A

p.Gly285Ser

P-loop

Northern European, Han Chinese

Childhood

Kubisch et al [1999], Wang et al [2014]

From: DFNA2 Nonsyndromic Hearing Loss

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