| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | G271V | Infantile seizures | High | 9 | 16691402, 21849107, 25960349 |
| KCNQ3 | G310V | Epilepsy, benign neonatal | High | 9 | 9425900, 19453707 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.
| KCNQ1 | YLAEKDAVN-----ESGRVEFGSYADALWW>G<VVTVTTIGYGDKVPQTWVGKTIASCFSVFA | 336 |
| KCNQ2 | YLAEKGE----------NDHFDTYADALWW>G<LITLTTIGYGDKYPQTWNGRLLAATFTLIG | 301 |
| KCNQ3 | YLVEKDVPEVDAQGEEMKEEFETYADALWW>G<LITLATIGYGDKTPKTWEGRLIAATFSLIG | 340 |
| KCNQ4 | YLAEKDA----------NSDFSSYADSLWW>G<TITLTTIGYGDKTPHTWLGRVLAAGFALLG | 307 |
| KCNQ5 | YLVEKDA----------NKEFSTYADALWW>G<TITLTTIGYGDKTPLTWLGRLLSAGFALLG | 335 |
| KCNA1 | YFAEAEE---------AESHFSSIPDAFWW>A<VVSMTTVGYGDMYPVTIGGKIVGSLCAIAG | 396 |
| KCNA10 | YFAEVDE---------PESHFSSIPDGFWW>A<VVTMTTVGYGDMCPTTPGGKIVGTLCAIAG | 445 |
| KCNA2 | YFAEADE---------RESQFPSIPDAFWW>A<VVSMTTVGYGDMVPTTIGGKIVGSLCAIAG | 398 |
| KCNA3 | YFAEADD---------PTSGFSSIPDAFWW>A<VVTMTTVGYGDMHPVTIGGKIVGSLCAIAG | 468 |
| KCNA4 | YFAEADE---------PTTHFQSIPDAFWW>A<VVTMTTVGYGDMKPITVGGKIVGSLCAIAG | 548 |
| KCNA5 | YFAEADN---------QGTHFSSIPDAFWW>A<VVTMTTVGYGDMRPITVGGKIVGSLCAIAG | 504 |
| KCNA6 | YFAEADD---------DDSLFPSIPDAFWW>A<VVTMTTVGYGDMYPMTVGGKIVGSLCAIAG | 446 |
| KCNA7 | YFAEVDR---------VDSHFTSIPESFWW>A<VVTMTTVGYGDMAPVTVGGKIVGSLCAIAG | 382 |
| KCNB1 | FFAEKDE---------DDTKFKSIPASFWW>A<TITMTTVGYGDIYPKTLLGKIVGGLCCIAG | 401 |
| KCNB2 | FFAEKDE---------DATKFTSIPASFWW>A<TITMTTVGYGDIYPKTLLGKIVGGLCCIAG | 405 |
| KCNC1 | YYAERIGAQPNDPSASEHTHFKNIPIGFWW>A<VVTMTTLGYGDMYPQTWSGMLVGALCALAG | 424 |
| KCNC2 | YYAERVGAQPNDPSASEHTQFKNIPIGFWW>A<VVTMTTLGYGDMYPQTWSGMLVGALCALAG | 461 |
| KCNC3 | YYAERIGADPDDILGSNHTYFKNIPIGFWW>A<VVTMTTLGYGDMYPKTWSGMLVGALCALAG | 527 |
| KCNC4 | YYAERIGARPSDPRGNDHTDFKNIPIGFWW>A<VVTMTTLGYGDMYPKTWSGMLVGALCALAG | 460 |
| KCND1 | FYAEKGT---------NKTNFTSIPAAFWY>T<IVTMTTLGYGDMVPSTIAGKIFGSICSLSG | 396 |
| KCND2 | FYAEKGS---------SASKFTSIPAAFWY>T<IVTMTTLGYGDMVPKTIAGKIFGSICSLSG | 394 |
| KCND3 | FYAEKGS---------SASKFTSIPASFWY>T<IVTMTTLGYGDMVPKTIAGKIFGSICSLSG | 391 |
| KCNF1 | YTMEQSH---------PETLFKSIPQSFWW>A<IITMTTVGYGDIYPKTTLGKLNAAISFLCG | 394 |
| KCNG1 | YVIENEM-----A---DSPEFTSIPACYWW>A<VITMTTVGYGDMVPRSTPGQVVALSSILSG | 448 |
| KCNG2 | HLAEREL-----G---ARRDFSSVPASYWW>A<VISMTTVGYGDMVPRSLPGQVVALSSILSG | 393 |
| KCNG3 | QLLEHGL-----DLETSNKDFTSIPAACWW>V<IISMTTVGYGDMYPITVPGRILGGVCVVSG | 397 |
| KCNG4 | YVAEKES-----G---RVLEFTSIPASYWW>A<IISMTTVGYGDMVPRSVPGQMVALSSILSG | 442 |
| KCNS1 | YTAEKEE----------DVGFNTIPACWWW>G<TVSMTTVGYGDVVPVTVAGKLAASGCILGG | 445 |
| KCNS2 | YTIEKEE----------NEGLATIPACWWW>A<TVSMTTVGYGDVVPGTTAGKLTASACILAG | 398 |
| KCNS3 | YSVEKDD---------HTSSLTSIPICWWW>A<TISMTTVGYGDTHPVTLAGKLIASTCIICG | 394 |
| KCNV1 | YFAEQSI---------PDTTFTSVPCAWWW>A<TTSMTTVGYGDIRPDTTTGKIVAFMCILSG | 416 |
| KCNV2 | YSVEHDV---------PSTNFTTIPHSWWW>A<AVSISTVGYGDMYPETHLGRFFAFLCIAFG | 481 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G306R | c.916G>C | Inherited Arrhythmia | LQTS | rs120074181 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| Inherited Arrhythmia | LQTS | Functional effects of mutations in KvLQT1 that cause long QT syndrome. J Cardiovasc Electrophysiol. 1999 10(6):817-26. 10376919 | |||
| Inherited Arrhythmia | LQTS | Functional consequences of the arrhythmogenic G306R KvLQT1 K+ channel mutant probed by viral gene transfer in cardiomyocytes. J Physiol. 2001 533(Pt 1):127-33. 11351021 | |||
| p.G306V | c.917G>T | Inherited Arrhythmia | LQTS | rs199472742 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002 20(6):475-6. 12442276 | ||
| Inherited Arrhythmia | LQTS | Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome. Chin Med J (Engl). 2003 116(9):1333-5. 14527360 | |||
| Inherited Arrhythmia | LQTS | [The mutation scanning of KCNQ1 gene for 31 long QT syndrome families]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 21(3):236-9. 15192825 | |||
| Inherited Arrhythmia | LQTS | [Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome]. Zhonghua Xin Xue Guan Bing Za Zhi. 2005 33(1):41-4. 15924777 | |||
| p.G306R | c.916G>A | Inherited Arrhythmia | LQTS | rs120074181 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Functional effects of mutations in KvLQT1 that cause long QT syndrome. J Cardiovasc Electrophysiol. 1999 10(6):817-26. 10376919 | ||
| Inherited Arrhythmia | LQTS | Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 12(1):17-23. 8528244 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | |||
| Inherited Arrhythmia | LQTS | Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004 44(1):117-25. 15234419 | |||
| Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | |||
| Inherited Arrhythmia | LQTS | Functional consequences of the arrhythmogenic G306R KvLQT1 K+ channel mutant probed by viral gene transfer in cardiomyocytes. J Physiol. 2001 533(Pt 1):127-33. 11351021 | |||