Table 1.

All known KCNJ10 mutations published to date.

Mutation	Pathogenic Inherited State	Experimental Residual activity	Reference
p.T57I (c.170C>T)	• Homozygous missense mutation	Loss of function	7
p.R65C (c.193G>C)	• Homozygous missense mutation	< 20%	5
p.R65P (c.194G>C)	• Homozygous missense mutation • Compound heterozygous missense / nonsense mutations with p.R199X	< 20%	1,2,8,38,39
p.F75C (c.224T>G)	• Homozygous missense mutation	Loss of function	6
p.F75L (c.225T>G)	• Homozygous missense mutation	< 10%	5
p.G77R (c.229G>C)	• Homozygous missense mutation	< 5%	1,8,39
p.V91fs197* (c.272delT)	• Homozygous frameshift mutation	Loss of function or < 2% residual activity	6
p.C140R (c.418T>C)	• Homozygous missense mutation	Loss of function	2,39,43
p.T164I (c.491C> T)	• Homozygous missense mutation	Loss of function	2,38,39,43
p.A167V (c.500C>T)	• Homozygous missense mutation • Compound heterozygous missense mutations with p.R297C	60%	2,6,38,39,43
p.R175Q (c.524G>A)	• Homozygous missense mutation	< 5%	8
p.R199* (c.595C>T)	• Compound heterozygous missense / nonsense mutations with p.R65P	Loss of function	2,38,39,43
p.V259* (c.775delG)	• Homozygous nonsense mutation	Loss of function	5
p.R297C (c.889C>T)	• Compound heterozygous missense mutations with p.A167V	< 10%	2,5,38,39,43