K+ channel gene
|
Human disease
|
Mouse model
|
Common mutations
|
KCNA1
| Episodic ataxia type 1 | | V408A; R239S; V174F; F249I; F184C; E325D; T226A; V404I; I176R |
KCNE1
| Long QT syndrome type 1 | | S74L, D76N |
KCNQ1
| Long QT syndrome type 1 | | 3 nucleotides deletion (TCG in codon 72); A83P; G189R; R95Q; V159M; L178F; G211R; T217I; A341E; A341V; G250E; G219S; R555C; W305S; A300T; R518T; A529T; 3 bp deletion (F339); 9 bp deletion del373-381 |
HERG
| Long QT syndrome type 2 | | 1 bp deletion (1261); 27 bp deletion (1500); A561V; N470D; I593R; V822M; G628S; R582C |
KCNJ6(GIRK2) | | Weaver | G156S |
KCNQ2
| Benign familial neonatal convulsions | | Y284C, A306T; 2 bp insertion (283 ins GT); 13 bp deletion at amino acid 522; 1 bp deletion, del2513G |
KCNQ3
| Benign familial neonatal convulsions | | G263V |