. Author manuscript; available in PMC: 2013 Jan 1.

Published in final edited form as: Mol Genet Metab. 2011 Oct 19;105(1):64–72. doi: 10.1016/j.ymgme.2011.10.004

Table 2.

Genetic correlation between Kir channel hotspot mutations and disease.

Gene-Protein	Mutation	Disease	Inheritance	References
KCNJ1- Kir1.1	Ala(A) 177 Thr(T)	Hyperprostaglandin E Syndrome/antenatal Bartter Syndrome	Autosomal Recessive - Homozygous Variant	37
KCNJ2 - Kir2.1	Pro(P) 186 Leu(L)	Andersen-Tawil Syndrome	Autosomal Dominant	45, 46
	Arg(R) 189 Ile(I)			40, 45
	Thr(T) 192 Ala(A)			47, 48
KCNJ10 -Kir4.1	Thr(T) 164 Ile(I)	SeSAME Syndrome (Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance)	Autosomal Recessive - Homozygous Variant	72
	Ala(A) 167 Val(V)		Autosomal Recessive - Compound heterozygous	72
	Arg(R) 175 Gln(Q)	EAST Syndrome (Epilepsy, Sensorineural Deafness, Tubulopathy) - same as SeSAME	Autosomal Recessive	73
KCNJ11 -Kir6.2	Cys(C) 166 Phe(F)	DEND Syndrome (Developmental Delay, Epilepsy, and Neonatal Diabetes) - Gain-of-Function mutation	Sporadic, de novomutation - Heterozygous activating mutation	94
	Ile(I) 167 Leu(L)			96
	Lys(K) 170 Arg(R)	Permanent Neonatal Diabetes Mellitus (PNDM)		97
	Lys(K) 170 Asn(N)			97
	Arg(R) 176 Cys(C)			98
	Glu(E) 179 Ala(A)	Transient Neonatal Diabetes Mellitus (TNDM)		102
KCNJ13 -Kir7.1	Arg(R) 162 Trp(W)	Snowflake Vitreoretinal Degeneration	Autosomal Dominant	112
KCNJ13 -Kir7.1	Arg(R) 166 Trp(W)	Leber's Congenital Amaurosis	Homozygous nonsense	114