No paralogue variants have been mapped to residue 259 for KCNQ1.
| KCNQ1 | GIRFLQILRMLHVDRQGGTWRLLGSVVFIH>R<QELITTLYIGFLGLIFSSYFVYLAEKDAVN | 289 |
| KCNQ2 | SLRFLQILRMIRMDRRGGTWKLLGSVVYAH>S<KELVTAWYIGFLCLILASFLVYLAEKGE-- | 257 |
| KCNQ3 | SLRFLQILRMLRMDRRGGTWKLLGSAICAH>S<KELITAWYIGFLTLILSSFLVYLVEKDVPE | 288 |
| KCNQ4 | SMRFLQILRMVRMDRRGGTWKLLGSVVYAH>S<KELITAWYIGFLVLIFASFLVYLAEKDA-- | 263 |
| KCNQ5 | SLRFLQILRMVRMDRRGGTWKLLGSVVYAH>S<KELITAWYIGFLVLIFSSFLVYLVEKDA-- | 291 |
| KCNA1 | VIRLVRVFRIFKLSRHSKGLQILGQTLKAS>M<RELGLLIFFLFIGVILFSSAVYFAEAEE-- | 351 |
| KCNA10 | IIRLVRVFRIFKLSRHSKGLQILGQTLKAS>M<RELGLLIFFLFIGVILFSSAVYFAEVDE-- | 400 |
| KCNA2 | VIRLVRVFRIFKLSRHSKGLQILGQTLKAS>M<RELGLLIFFLFIGVILFSSAVYFAEADE-- | 353 |
| KCNA3 | VIRLVRVFRIFKLSRHSKGLQILGQTLKAS>M<RELGLLIFFLFIGVILFSSAVYFAEADD-- | 423 |
| KCNA4 | IIRLVRVFRIFKLSRHSKGLQILGHTLRAS>M<RELGLLIFFLFIGVILFSSAVYFAEADE-- | 503 |
| KCNA5 | VIRLVRVFRIFKLSRHSKGLQILGKTLQAS>M<RELGLLIFFLFIGVILFSSAVYFAEADN-- | 459 |
| KCNA6 | VIRLVRVFRIFKLSRHSKGLQILGKTLQAS>M<RELGLLIFFLFIGVILFSSAVYFAEADD-- | 401 |
| KCNA7 | VIRLVRVFRIFKLSRHSKGLQILGQTLRAS>M<RELGLLIFFLFIGVVLFSSAVYFAEVDR-- | 337 |
| KCNB1 | IFRIMRILRILKLARHSTGLQSLGFTLRRS>Y<NELGLLILFLAMGIMIFSSLVFFAEKDE-- | 356 |
| KCNB2 | IFRIMRILRILKLARHSTGLQSLGFTLRRS>Y<NELGLLILFLAMGIMIFSSLVFFAEKDE-- | 360 |
| KCNC1 | VVRFVRILRIFKLTRHFVGLRVLGHTLRAS>T<NEFLLLIIFLALGVLIFATMIYYAERIGAQ | 372 |
| KCNC2 | VVRFVRILRIFKLTRHFVGLRVLGHTLRAS>T<NEFLLLIIFLALGVLIFATMIYYAERVGAQ | 409 |
| KCNC3 | VVRFVRILRIFKLTRHFVGLRVLGHTLRAS>T<NEFLLLIIFLALGVLIFATMIYYAERIGAD | 475 |
| KCNC4 | VVRFVRILRIFKLTRHFVGLRVLGHTLRAS>T<NEFLLLIIFLALGVLIFATMIYYAERIGAR | 408 |
| KCND1 | TLRVFRVFRIFKFSRHSQGLRILGYTLKSC>A<SELGFLLFSLTMAIIIFATVMFYAEKGT-- | 351 |
| KCND2 | TLRVFRVFRIFKFSRHSQGLRILGYTLKSC>A<SELGFLLFSLTMAIIIFATVMFYAEKGS-- | 349 |
| KCND3 | TLRVFRVFRIFKFSRHSQGLRILGYTLKSC>A<SELGFLLFSLTMAIIIFATVMFYAEKGS-- | 346 |
| KCNF1 | ALRIMRIARIFKLARHSSGLQTLTYALKRS>F<KELGLLLMYLAVGIFVFSALGYTMEQSH-- | 349 |
| KCNG1 | VLRALRILYVMRLARHSLGLQTLGLTARRC>T<REFGLLLLFLCVAIALFAPLLYVIENEM-- | 402 |
| KCNG2 | LLRALRVLYVMRLARHSLGLRSLGLTMRRC>A<REFGLLLLFLCVAMALFAPLVHLAEREL-- | 347 |
| KCNG3 | VLRMMRIFWVIKLARHFIGLQTLGLTLKRC>Y<REMVMLLVFICVAMAIFSALSQLLEHGL-- | 348 |
| KCNG4 | VLRALRILYVMRLARHSLGLQTLGLTVRRC>T<REFGLLLLFLAVAITLFSPLVYVAEKES-- | 396 |
| KCNS1 | VFRLMRIFRVLKLARHSTGLRSLGATLKHS>Y<REVGILLLYLAVGVSVFSGVAYTAEKEE-- | 401 |
| KCNS2 | VLRLMRIFRILKLARHSTGLRSLGATLKYS>Y<KEVGLLLLYLSVGISIFSVVAYTIEKEE-- | 354 |
| KCNS3 | ILRLMRIFRILKLARHSVGLRSLGATLRHS>Y<HEVGLLLLFLSVGISIFSVLIYSVEKDD-- | 349 |
| KCNV1 | VLRLLRALRMLKLGRHSTGLRSLGMTITQC>Y<EEVGLLLLFLSVGISIFSTVEYFAEQSI-- | 371 |
| KCNV2 | VMRLMRIFRILKLARHSTGLRAFGFTLRQC>Y<QQVGCLLLFIAMGIFTFSAAVYSVEHDV-- | 436 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R259C | c.775C>T | Inherited Arrhythmia | LQTS | rs199472719 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1. J Cardiovasc Electrophysiol. 2000 11(9):1048-54. 11021476 | ||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| 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 | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.R259H | c.776G>A | Inherited Arrhythmia | LQTS,SQTS | rs199472720 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | ||
| Inherited Arrhythmia | SQTS | Novel insight into the natural history of short QT syndrome. J Am Coll Cardiol. 2014 63(13):1300-8. doi: 10.1016/j.jacc.2013.09.078. 24291113 | |||
| Inherited Arrhythmia | SQTS | Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. J Geriatr Cardiol. 2015 12(4):394-401. doi: 10.11909/j.issn.1671-5411.2015 26346102 | |||
| Inherited Arrhythmia | SQTS | Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. J Geriatr Cardiol. 2015 12(4):394-401. doi: 10.11909/j.issn.1671-5411.2015 26346102 | |||
| p.R259L | c.776G>T | Inherited Arrhythmia | LQTS,JLNS | rs199472720 | 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 | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | JLNS | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653 | |||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||