No paralogue variants have been mapped to residue 308 for KCNQ1.
| KCNQ1 | AEKDAVN-----ESGRVEFGSYADALWWGV>V<TVTTIGYGDKVPQTWVGKTIASCFSVFAIS | 338 |
| KCNQ2 | AEKGE----------NDHFDTYADALWWGL>I<TLTTIGYGDKYPQTWNGRLLAATFTLIGVS | 303 |
| KCNQ3 | VEKDVPEVDAQGEEMKEEFETYADALWWGL>I<TLATIGYGDKTPKTWEGRLIAATFSLIGVS | 342 |
| KCNQ4 | AEKDA----------NSDFSSYADSLWWGT>I<TLTTIGYGDKTPHTWLGRVLAAGFALLGIS | 309 |
| KCNQ5 | VEKDA----------NKEFSTYADALWWGT>I<TLTTIGYGDKTPLTWLGRLLSAGFALLGIS | 337 |
| KCNA1 | AEAEE---------AESHFSSIPDAFWWAV>V<SMTTVGYGDMYPVTIGGKIVGSLCAIAGVL | 398 |
| KCNA10 | AEVDE---------PESHFSSIPDGFWWAV>V<TMTTVGYGDMCPTTPGGKIVGTLCAIAGVL | 447 |
| KCNA2 | AEADE---------RESQFPSIPDAFWWAV>V<SMTTVGYGDMVPTTIGGKIVGSLCAIAGVL | 400 |
| KCNA3 | AEADD---------PTSGFSSIPDAFWWAV>V<TMTTVGYGDMHPVTIGGKIVGSLCAIAGVL | 470 |
| KCNA4 | AEADE---------PTTHFQSIPDAFWWAV>V<TMTTVGYGDMKPITVGGKIVGSLCAIAGVL | 550 |
| KCNA5 | AEADN---------QGTHFSSIPDAFWWAV>V<TMTTVGYGDMRPITVGGKIVGSLCAIAGVL | 506 |
| KCNA6 | AEADD---------DDSLFPSIPDAFWWAV>V<TMTTVGYGDMYPMTVGGKIVGSLCAIAGVL | 448 |
| KCNA7 | AEVDR---------VDSHFTSIPESFWWAV>V<TMTTVGYGDMAPVTVGGKIVGSLCAIAGVL | 384 |
| KCNB1 | AEKDE---------DDTKFKSIPASFWWAT>I<TMTTVGYGDIYPKTLLGKIVGGLCCIAGVL | 403 |
| KCNB2 | AEKDE---------DATKFTSIPASFWWAT>I<TMTTVGYGDIYPKTLLGKIVGGLCCIAGVL | 407 |
| KCNC1 | AERIGAQPNDPSASEHTHFKNIPIGFWWAV>V<TMTTLGYGDMYPQTWSGMLVGALCALAGVL | 426 |
| KCNC2 | AERVGAQPNDPSASEHTQFKNIPIGFWWAV>V<TMTTLGYGDMYPQTWSGMLVGALCALAGVL | 463 |
| KCNC3 | AERIGADPDDILGSNHTYFKNIPIGFWWAV>V<TMTTLGYGDMYPKTWSGMLVGALCALAGVL | 529 |
| KCNC4 | AERIGARPSDPRGNDHTDFKNIPIGFWWAV>V<TMTTLGYGDMYPKTWSGMLVGALCALAGVL | 462 |
| KCND1 | AEKGT---------NKTNFTSIPAAFWYTI>V<TMTTLGYGDMVPSTIAGKIFGSICSLSGVL | 398 |
| KCND2 | AEKGS---------SASKFTSIPAAFWYTI>V<TMTTLGYGDMVPKTIAGKIFGSICSLSGVL | 396 |
| KCND3 | AEKGS---------SASKFTSIPASFWYTI>V<TMTTLGYGDMVPKTIAGKIFGSICSLSGVL | 393 |
| KCNF1 | MEQSH---------PETLFKSIPQSFWWAI>I<TMTTVGYGDIYPKTTLGKLNAAISFLCGVI | 396 |
| KCNG1 | IENEM-----A---DSPEFTSIPACYWWAV>I<TMTTVGYGDMVPRSTPGQVVALSSILSGIL | 450 |
| KCNG2 | AEREL-----G---ARRDFSSVPASYWWAV>I<SMTTVGYGDMVPRSLPGQVVALSSILSGIL | 395 |
| KCNG3 | LEHGL-----DLETSNKDFTSIPAACWWVI>I<SMTTVGYGDMYPITVPGRILGGVCVVSGIV | 399 |
| KCNG4 | AEKES-----G---RVLEFTSIPASYWWAI>I<SMTTVGYGDMVPRSVPGQMVALSSILSGIL | 444 |
| KCNS1 | AEKEE----------DVGFNTIPACWWWGT>V<SMTTVGYGDVVPVTVAGKLAASGCILGGIL | 447 |
| KCNS2 | IEKEE----------NEGLATIPACWWWAT>V<SMTTVGYGDVVPGTTAGKLTASACILAGIL | 400 |
| KCNS3 | VEKDD---------HTSSLTSIPICWWWAT>I<SMTTVGYGDTHPVTLAGKLIASTCIICGIL | 396 |
| KCNV1 | AEQSI---------PDTTFTSVPCAWWWAT>T<SMTTVGYGDIRPDTTTGKIVAFMCILSGIL | 418 |
| KCNV2 | VEHDV---------PSTNFTTIPHSWWWAA>V<SISTVGYGDMYPETHLGRFFAFLCIAFGII | 483 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V308D | c.923T>A | Inherited Arrhythmia | LQTS | rs199473467 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||