No paralogue variants have been mapped to residue 307 for KCNQ1.
| KCNQ1 | LAEKDAVN-----ESGRVEFGSYADALWWG>V<VTVTTIGYGDKVPQTWVGKTIASCFSVFAI | 337 |
| KCNQ2 | LAEKGE----------NDHFDTYADALWWG>L<ITLTTIGYGDKYPQTWNGRLLAATFTLIGV | 302 |
| KCNQ3 | LVEKDVPEVDAQGEEMKEEFETYADALWWG>L<ITLATIGYGDKTPKTWEGRLIAATFSLIGV | 341 |
| KCNQ4 | LAEKDA----------NSDFSSYADSLWWG>T<ITLTTIGYGDKTPHTWLGRVLAAGFALLGI | 308 |
| KCNQ5 | LVEKDA----------NKEFSTYADALWWG>T<ITLTTIGYGDKTPLTWLGRLLSAGFALLGI | 336 |
| KCNA1 | FAEAEE---------AESHFSSIPDAFWWA>V<VSMTTVGYGDMYPVTIGGKIVGSLCAIAGV | 397 |
| KCNA10 | FAEVDE---------PESHFSSIPDGFWWA>V<VTMTTVGYGDMCPTTPGGKIVGTLCAIAGV | 446 |
| KCNA2 | FAEADE---------RESQFPSIPDAFWWA>V<VSMTTVGYGDMVPTTIGGKIVGSLCAIAGV | 399 |
| KCNA3 | FAEADD---------PTSGFSSIPDAFWWA>V<VTMTTVGYGDMHPVTIGGKIVGSLCAIAGV | 469 |
| KCNA4 | FAEADE---------PTTHFQSIPDAFWWA>V<VTMTTVGYGDMKPITVGGKIVGSLCAIAGV | 549 |
| KCNA5 | FAEADN---------QGTHFSSIPDAFWWA>V<VTMTTVGYGDMRPITVGGKIVGSLCAIAGV | 505 |
| KCNA6 | FAEADD---------DDSLFPSIPDAFWWA>V<VTMTTVGYGDMYPMTVGGKIVGSLCAIAGV | 447 |
| KCNA7 | FAEVDR---------VDSHFTSIPESFWWA>V<VTMTTVGYGDMAPVTVGGKIVGSLCAIAGV | 383 |
| KCNB1 | FAEKDE---------DDTKFKSIPASFWWA>T<ITMTTVGYGDIYPKTLLGKIVGGLCCIAGV | 402 |
| KCNB2 | FAEKDE---------DATKFTSIPASFWWA>T<ITMTTVGYGDIYPKTLLGKIVGGLCCIAGV | 406 |
| KCNC1 | YAERIGAQPNDPSASEHTHFKNIPIGFWWA>V<VTMTTLGYGDMYPQTWSGMLVGALCALAGV | 425 |
| KCNC2 | YAERVGAQPNDPSASEHTQFKNIPIGFWWA>V<VTMTTLGYGDMYPQTWSGMLVGALCALAGV | 462 |
| KCNC3 | YAERIGADPDDILGSNHTYFKNIPIGFWWA>V<VTMTTLGYGDMYPKTWSGMLVGALCALAGV | 528 |
| KCNC4 | YAERIGARPSDPRGNDHTDFKNIPIGFWWA>V<VTMTTLGYGDMYPKTWSGMLVGALCALAGV | 461 |
| KCND1 | YAEKGT---------NKTNFTSIPAAFWYT>I<VTMTTLGYGDMVPSTIAGKIFGSICSLSGV | 397 |
| KCND2 | YAEKGS---------SASKFTSIPAAFWYT>I<VTMTTLGYGDMVPKTIAGKIFGSICSLSGV | 395 |
| KCND3 | YAEKGS---------SASKFTSIPASFWYT>I<VTMTTLGYGDMVPKTIAGKIFGSICSLSGV | 392 |
| KCNF1 | TMEQSH---------PETLFKSIPQSFWWA>I<ITMTTVGYGDIYPKTTLGKLNAAISFLCGV | 395 |
| KCNG1 | VIENEM-----A---DSPEFTSIPACYWWA>V<ITMTTVGYGDMVPRSTPGQVVALSSILSGI | 449 |
| KCNG2 | LAEREL-----G---ARRDFSSVPASYWWA>V<ISMTTVGYGDMVPRSLPGQVVALSSILSGI | 394 |
| KCNG3 | LLEHGL-----DLETSNKDFTSIPAACWWV>I<ISMTTVGYGDMYPITVPGRILGGVCVVSGI | 398 |
| KCNG4 | VAEKES-----G---RVLEFTSIPASYWWA>I<ISMTTVGYGDMVPRSVPGQMVALSSILSGI | 443 |
| KCNS1 | TAEKEE----------DVGFNTIPACWWWG>T<VSMTTVGYGDVVPVTVAGKLAASGCILGGI | 446 |
| KCNS2 | TIEKEE----------NEGLATIPACWWWA>T<VSMTTVGYGDVVPGTTAGKLTASACILAGI | 399 |
| KCNS3 | SVEKDD---------HTSSLTSIPICWWWA>T<ISMTTVGYGDTHPVTLAGKLIASTCIICGI | 395 |
| KCNV1 | FAEQSI---------PDTTFTSVPCAWWWA>T<TSMTTVGYGDIRPDTTTGKIVAFMCILSGI | 417 |
| KCNV2 | SVEHDV---------PSTNFTTIPHSWWWA>A<VSISTVGYGDMYPETHLGRFFAFLCIAFGI | 482 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V307L | c.919G>C | Inherited Arrhythmia | LQTS,SQTS | rs120074195 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | SQTS | Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004 109(20):2394-7. 15159330 | ||
| Inherited Arrhythmia | SQTS | Action potential clamp and mefloquine sensitivity of recombinant 'I KS' channels incorporating the V307L KCNQ1 mutation. J Physiol Pharmacol. 2010 61(2):123-31. 20436212 | |||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | SQTS | Identification of specific pore residues mediating KCNQ1 inactivation. A novel mechanism for long QT syndrome. J Biol Chem. 2001 276(17):13600-5. 11278406 | |||