No paralogue variants have been mapped to residue 302 for KCNQ1.
| KCNQ1 | SYFVYLAEKDAVN-----ESGRVEFGSYAD>A<LWWGVVTVTTIGYGDKVPQTWVGKTIASCF | 332 |
| KCNQ2 | SFLVYLAEKGE----------NDHFDTYAD>A<LWWGLITLTTIGYGDKYPQTWNGRLLAATF | 297 |
| KCNQ3 | SFLVYLVEKDVPEVDAQGEEMKEEFETYAD>A<LWWGLITLATIGYGDKTPKTWEGRLIAATF | 336 |
| KCNQ4 | SFLVYLAEKDA----------NSDFSSYAD>S<LWWGTITLTTIGYGDKTPHTWLGRVLAAGF | 303 |
| KCNQ5 | SFLVYLVEKDA----------NKEFSTYAD>A<LWWGTITLTTIGYGDKTPLTWLGRLLSAGF | 331 |
| KCNA1 | SSAVYFAEAEE---------AESHFSSIPD>A<FWWAVVSMTTVGYGDMYPVTIGGKIVGSLC | 392 |
| KCNA10 | SSAVYFAEVDE---------PESHFSSIPD>G<FWWAVVTMTTVGYGDMCPTTPGGKIVGTLC | 441 |
| KCNA2 | SSAVYFAEADE---------RESQFPSIPD>A<FWWAVVSMTTVGYGDMVPTTIGGKIVGSLC | 394 |
| KCNA3 | SSAVYFAEADD---------PTSGFSSIPD>A<FWWAVVTMTTVGYGDMHPVTIGGKIVGSLC | 464 |
| KCNA4 | SSAVYFAEADE---------PTTHFQSIPD>A<FWWAVVTMTTVGYGDMKPITVGGKIVGSLC | 544 |
| KCNA5 | SSAVYFAEADN---------QGTHFSSIPD>A<FWWAVVTMTTVGYGDMRPITVGGKIVGSLC | 500 |
| KCNA6 | SSAVYFAEADD---------DDSLFPSIPD>A<FWWAVVTMTTVGYGDMYPMTVGGKIVGSLC | 442 |
| KCNA7 | SSAVYFAEVDR---------VDSHFTSIPE>S<FWWAVVTMTTVGYGDMAPVTVGGKIVGSLC | 378 |
| KCNB1 | SSLVFFAEKDE---------DDTKFKSIPA>S<FWWATITMTTVGYGDIYPKTLLGKIVGGLC | 397 |
| KCNB2 | SSLVFFAEKDE---------DATKFTSIPA>S<FWWATITMTTVGYGDIYPKTLLGKIVGGLC | 401 |
| KCNC1 | ATMIYYAERIGAQPNDPSASEHTHFKNIPI>G<FWWAVVTMTTLGYGDMYPQTWSGMLVGALC | 420 |
| KCNC2 | ATMIYYAERVGAQPNDPSASEHTQFKNIPI>G<FWWAVVTMTTLGYGDMYPQTWSGMLVGALC | 457 |
| KCNC3 | ATMIYYAERIGADPDDILGSNHTYFKNIPI>G<FWWAVVTMTTLGYGDMYPKTWSGMLVGALC | 523 |
| KCNC4 | ATMIYYAERIGARPSDPRGNDHTDFKNIPI>G<FWWAVVTMTTLGYGDMYPKTWSGMLVGALC | 456 |
| KCND1 | ATVMFYAEKGT---------NKTNFTSIPA>A<FWYTIVTMTTLGYGDMVPSTIAGKIFGSIC | 392 |
| KCND2 | ATVMFYAEKGS---------SASKFTSIPA>A<FWYTIVTMTTLGYGDMVPKTIAGKIFGSIC | 390 |
| KCND3 | ATVMFYAEKGS---------SASKFTSIPA>S<FWYTIVTMTTLGYGDMVPKTIAGKIFGSIC | 387 |
| KCNF1 | SALGYTMEQSH---------PETLFKSIPQ>S<FWWAIITMTTVGYGDIYPKTTLGKLNAAIS | 390 |
| KCNG1 | APLLYVIENEM-----A---DSPEFTSIPA>C<YWWAVITMTTVGYGDMVPRSTPGQVVALSS | 444 |
| KCNG2 | APLVHLAEREL-----G---ARRDFSSVPA>S<YWWAVISMTTVGYGDMVPRSLPGQVVALSS | 389 |
| KCNG3 | SALSQLLEHGL-----DLETSNKDFTSIPA>A<CWWVIISMTTVGYGDMYPITVPGRILGGVC | 393 |
| KCNG4 | SPLVYVAEKES-----G---RVLEFTSIPA>S<YWWAIISMTTVGYGDMVPRSVPGQMVALSS | 438 |
| KCNS1 | SGVAYTAEKEE----------DVGFNTIPA>C<WWWGTVSMTTVGYGDVVPVTVAGKLAASGC | 441 |
| KCNS2 | SVVAYTIEKEE----------NEGLATIPA>C<WWWATVSMTTVGYGDVVPGTTAGKLTASAC | 394 |
| KCNS3 | SVLIYSVEKDD---------HTSSLTSIPI>C<WWWATISMTTVGYGDTHPVTLAGKLIASTC | 390 |
| KCNV1 | STVEYFAEQSI---------PDTTFTSVPC>A<WWWATTSMTTVGYGDIRPDTTTGKIVAFMC | 412 |
| KCNV2 | SAAVYSVEHDV---------PSTNFTTIPH>S<WWWAAVSISTVGYGDMYPETHLGRFFAFLC | 477 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A302E | c.905C>A | Inherited Arrhythmia | LQTS | rs193922365 | 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 | ||
| p.A302T | c.904G>A | Inherited Arrhythmia | LQTS | rs199472739 | 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 | ||
| p.A302V | c.905C>T | Inherited Arrhythmia | LQTS,AF | rs193922365 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | ||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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 | Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(4):417-26. 19808498 | |||
| Unknown | Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. J Cardiovasc Electrophysiol. 2009 20(8):859-65. 19490272 | ||||
| Inherited Arrhythmia | AF | Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart Rhythm. 2014 11(2):246-51. doi: 10.1016/j.hrthm.2013.10.034. 24144883 | |||
| Inherited Arrhythmia | LQTS | IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation. J Cardiovasc Electrophysiol. 2015 26(7):715-23. doi: 10.1111/jce.12666. 25786344 | |||