| Channel . | Gene . | Unitary cond. . | Tissue expression . | S6 limits . | Mutation . | Disease . | Reference . | |
|---|---|---|---|---|---|---|---|---|
| pS | ||||||||
| Kv1.1 | KCNA1 | 8.7–20 | Central nervous system, kidney, and heart | 387–415 | V404I, V408A | Episodic ataxia | EA1 | Browne et al., 1994; Scheffer et al., 1998 |
| Kv1.2 | KCNA2 | 14–18 | Neocortex, hippocampus, main olfactory bulb, and cerebellum | 389–417 | P405L | Early infantile epileptic encephalopathy, 32 | EIEE32 | Syrbe et al., 2015 |
| Kv2.1 | KCNB1 | 14 | Hippocampal neurons and cortical neurons | 392–420 | G401R | Early infantile epileptic encephalopathy, 26 | EIEE26 | Saitsu et al., 2015 |
| Kv3.3 | KCNC3 | 32–38 | Cerebellum, basal ganglia, and spinal cord | 518–539 | V535M | Spinocerebellar ataxia 13 | SCA13 | Duarri et al., 2015 |
| Kv4.3 | KCND3 | 4 | Substantia nigra pars compact, retrosplenial cortex, superior colliculus, the raphe nuclei and amygdala, olfactory bulb, and dentate gyrus | 382–402 | S390N; V392I | Spinocerebellar ataxia 19; Brugada syndrome | SCA19; BRGDA9 | Duarri et al., 2012; Giudicessi et al., 2012 |
| Kv7.1 | KCNQ1 | 0.7–4 | Heart, uterus, stomach, small and large intestine, kidney and pancreas; smooth muscle | 328–348 | F339Y, A341E/G/V, L342F, P343L/R/S, A344E/V, G345E/R | Long QT síndrome type 1 | LQT1 | Jongbloed et al., 1999; Tester et al., 2005; Kapplinger et al., 2009 |
| Kv7.2 | KCNQ2 | 6.5 | Hippocampal and cortical neurons | 292–312 | A306T | Benign familial neonatal seizures | BFNS1 | Singh et al., 2003 |
| Kv7.4 | KCNQ4 | 2.1 | Brain, cochlea, heart, and skeletal muscle; neuron derived from embryonic stem cells | 297–317 | G321S | Deafness autosomal dominant 2A | DFNA2A | Coucke et al., 1999 |
| Kv10.1 EAG | KCNH1 | 8.5 | Brain, kidney, lung, and pancreas; in brain: in cortex, hippocampus, caudate, putamen, amígdala, and substantia nigra | 478–498 | L489F, I494V | Temple-Baraitser syndrome and epilepsy | TMBTS | Simons et al., 2015 |
| Kv11.1 ERG | KCNH2 | 10–13 | Brian: reticular thalamic nucleus, cerebral cortex, cerebellum, and hippocampus; heart | 639–659 | F640L/V, S641F, V644F/L, M645I/L, G648S, F656C, G657R | Long QT syndrome 2 | LGT2 | Napolitano et al., 2005; Tester et al., 2005; Kapplinger et al., 2009 |
| KCa3.1 | KCNN4 | 30–80 | Nonexcitable tissues | 265–285 | V282E/M | Dehydrated hereditary stomatocytosis | DHS2 | Glogowska et al., 2015 |
| TASK 3 | KCNK9 | 16–32 | Cerebellum and external plexiform layer of the olfactory bulb; hippocampus | 219–239 | G236R | Birk-Barel mental retardation dysmorphism | BIBAS | Barel et al., 2008 |
| Channel . | Gene . | Unitary cond. . | Tissue expression . | S6 limits . | Mutation . | Disease . | Reference . | |
|---|---|---|---|---|---|---|---|---|
| pS | ||||||||
| Kv1.1 | KCNA1 | 8.7–20 | Central nervous system, kidney, and heart | 387–415 | V404I, V408A | Episodic ataxia | EA1 | Browne et al., 1994; Scheffer et al., 1998 |
| Kv1.2 | KCNA2 | 14–18 | Neocortex, hippocampus, main olfactory bulb, and cerebellum | 389–417 | P405L | Early infantile epileptic encephalopathy, 32 | EIEE32 | Syrbe et al., 2015 |
| Kv2.1 | KCNB1 | 14 | Hippocampal neurons and cortical neurons | 392–420 | G401R | Early infantile epileptic encephalopathy, 26 | EIEE26 | Saitsu et al., 2015 |
| Kv3.3 | KCNC3 | 32–38 | Cerebellum, basal ganglia, and spinal cord | 518–539 | V535M | Spinocerebellar ataxia 13 | SCA13 | Duarri et al., 2015 |
| Kv4.3 | KCND3 | 4 | Substantia nigra pars compact, retrosplenial cortex, superior colliculus, the raphe nuclei and amygdala, olfactory bulb, and dentate gyrus | 382–402 | S390N; V392I | Spinocerebellar ataxia 19; Brugada syndrome | SCA19; BRGDA9 | Duarri et al., 2012; Giudicessi et al., 2012 |
| Kv7.1 | KCNQ1 | 0.7–4 | Heart, uterus, stomach, small and large intestine, kidney and pancreas; smooth muscle | 328–348 | F339Y, A341E/G/V, L342F, P343L/R/S, A344E/V, G345E/R | Long QT síndrome type 1 | LQT1 | Jongbloed et al., 1999; Tester et al., 2005; Kapplinger et al., 2009 |
| Kv7.2 | KCNQ2 | 6.5 | Hippocampal and cortical neurons | 292–312 | A306T | Benign familial neonatal seizures | BFNS1 | Singh et al., 2003 |
| Kv7.4 | KCNQ4 | 2.1 | Brain, cochlea, heart, and skeletal muscle; neuron derived from embryonic stem cells | 297–317 | G321S | Deafness autosomal dominant 2A | DFNA2A | Coucke et al., 1999 |
| Kv10.1 EAG | KCNH1 | 8.5 | Brain, kidney, lung, and pancreas; in brain: in cortex, hippocampus, caudate, putamen, amígdala, and substantia nigra | 478–498 | L489F, I494V | Temple-Baraitser syndrome and epilepsy | TMBTS | Simons et al., 2015 |
| Kv11.1 ERG | KCNH2 | 10–13 | Brian: reticular thalamic nucleus, cerebral cortex, cerebellum, and hippocampus; heart | 639–659 | F640L/V, S641F, V644F/L, M645I/L, G648S, F656C, G657R | Long QT syndrome 2 | LGT2 | Napolitano et al., 2005; Tester et al., 2005; Kapplinger et al., 2009 |
| KCa3.1 | KCNN4 | 30–80 | Nonexcitable tissues | 265–285 | V282E/M | Dehydrated hereditary stomatocytosis | DHS2 | Glogowska et al., 2015 |
| TASK 3 | KCNK9 | 16–32 | Cerebellum and external plexiform layer of the olfactory bulb; hippocampus | 219–239 | G236R | Birk-Barel mental retardation dysmorphism | BIBAS | Barel et al., 2008 |
Non-exhaustive listing of mutations potentially affecting unitary conductance in voltage-gated K+ channel. Mutational data as well as topological composition of S6 transmembrane segments were obtained from UniProt (http://www.uniprot.org/uniprot/).