EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

Figures & data

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

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