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 |
Arg(R) 166 Trp(W) |
Leber's Congenital Amaurosis |
Homozygous nonsense |
114 |