Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNQ2 | S247W | Epilepsy, benign neonatal | High | 9 | 12742592 |
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 | TWRLLGSVVFIHRQELITTLYIGFLGLIFS>S<YFVYLAEKDAVN-----ESGRVEFGSYADA | 302 |
KCNQ2 | TWKLLGSVVYAHSKELVTAWYIGFLCLILA>S<FLVYLAEKGE----------NDHFDTYADA | 267 |
KCNQ3 | TWKLLGSAICAHSKELITAWYIGFLTLILS>S<FLVYLVEKDVPEVDAQGEEMKEEFETYADA | 306 |
KCNQ4 | TWKLLGSVVYAHSKELITAWYIGFLVLIFA>S<FLVYLAEKDA----------NSDFSSYADS | 273 |
KCNQ5 | TWKLLGSVVYAHSKELITAWYIGFLVLIFS>S<FLVYLVEKDA----------NKEFSTYADA | 301 |
KCNA1 | GLQILGQTLKASMRELGLLIFFLFIGVILF>S<SAVYFAEAEE---------AESHFSSIPDA | 362 |
KCNA10 | GLQILGQTLKASMRELGLLIFFLFIGVILF>S<SAVYFAEVDE---------PESHFSSIPDG | 411 |
KCNA2 | GLQILGQTLKASMRELGLLIFFLFIGVILF>S<SAVYFAEADE---------RESQFPSIPDA | 364 |
KCNA3 | GLQILGQTLKASMRELGLLIFFLFIGVILF>S<SAVYFAEADD---------PTSGFSSIPDA | 434 |
KCNA4 | GLQILGHTLRASMRELGLLIFFLFIGVILF>S<SAVYFAEADE---------PTTHFQSIPDA | 514 |
KCNA5 | GLQILGKTLQASMRELGLLIFFLFIGVILF>S<SAVYFAEADN---------QGTHFSSIPDA | 470 |
KCNA6 | GLQILGKTLQASMRELGLLIFFLFIGVILF>S<SAVYFAEADD---------DDSLFPSIPDA | 412 |
KCNA7 | GLQILGQTLRASMRELGLLIFFLFIGVVLF>S<SAVYFAEVDR---------VDSHFTSIPES | 348 |
KCNB1 | GLQSLGFTLRRSYNELGLLILFLAMGIMIF>S<SLVFFAEKDE---------DDTKFKSIPAS | 367 |
KCNB2 | GLQSLGFTLRRSYNELGLLILFLAMGIMIF>S<SLVFFAEKDE---------DATKFTSIPAS | 371 |
KCNC1 | GLRVLGHTLRASTNEFLLLIIFLALGVLIF>A<TMIYYAERIGAQPNDPSASEHTHFKNIPIG | 390 |
KCNC2 | GLRVLGHTLRASTNEFLLLIIFLALGVLIF>A<TMIYYAERVGAQPNDPSASEHTQFKNIPIG | 427 |
KCNC3 | GLRVLGHTLRASTNEFLLLIIFLALGVLIF>A<TMIYYAERIGADPDDILGSNHTYFKNIPIG | 493 |
KCNC4 | GLRVLGHTLRASTNEFLLLIIFLALGVLIF>A<TMIYYAERIGARPSDPRGNDHTDFKNIPIG | 426 |
KCND1 | GLRILGYTLKSCASELGFLLFSLTMAIIIF>A<TVMFYAEKGT---------NKTNFTSIPAA | 362 |
KCND2 | GLRILGYTLKSCASELGFLLFSLTMAIIIF>A<TVMFYAEKGS---------SASKFTSIPAA | 360 |
KCND3 | GLRILGYTLKSCASELGFLLFSLTMAIIIF>A<TVMFYAEKGS---------SASKFTSIPAS | 357 |
KCNF1 | GLQTLTYALKRSFKELGLLLMYLAVGIFVF>S<ALGYTMEQSH---------PETLFKSIPQS | 360 |
KCNG1 | GLQTLGLTARRCTREFGLLLLFLCVAIALF>A<PLLYVIENEM-----A---DSPEFTSIPAC | 414 |
KCNG2 | GLRSLGLTMRRCAREFGLLLLFLCVAMALF>A<PLVHLAEREL-----G---ARRDFSSVPAS | 359 |
KCNG3 | GLQTLGLTLKRCYREMVMLLVFICVAMAIF>S<ALSQLLEHGL-----DLETSNKDFTSIPAA | 363 |
KCNG4 | GLQTLGLTVRRCTREFGLLLLFLAVAITLF>S<PLVYVAEKES-----G---RVLEFTSIPAS | 408 |
KCNS1 | GLRSLGATLKHSYREVGILLLYLAVGVSVF>S<GVAYTAEKEE----------DVGFNTIPAC | 411 |
KCNS2 | GLRSLGATLKYSYKEVGLLLLYLSVGISIF>S<VVAYTIEKEE----------NEGLATIPAC | 364 |
KCNS3 | GLRSLGATLRHSYHEVGLLLLFLSVGISIF>S<VLIYSVEKDD---------HTSSLTSIPIC | 360 |
KCNV1 | GLRSLGMTITQCYEEVGLLLLFLSVGISIF>S<TVEYFAEQSI---------PDTTFTSVPCA | 382 |
KCNV2 | GLRAFGFTLRQCYQQVGCLLLFIAMGIFTF>S<AAVYSVEHDV---------PSTNFTTIPHS | 447 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S277L | c.830C>T | Inherited Arrhythmia | LQTS | rs199472730 | 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 | [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 | 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 | [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2006 45(6):463-6. 16831322 | |||
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 mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. Biochim Biophys Acta. 2011 1812(4):488-94. 21241800 | |||
Inherited Arrhythmia | LQTS | A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L. Pacing Clin Electrophysiol. 2011 34(12):1652-64. doi: 10.1111/j.1540-8159.2011.0319 21895724 | |||
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 | |||
p.S277P | c.829T>C | Inherited Arrhythmia | LQTS | rs199473461 | 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.S277W | c.830C>G | Inherited Arrhythmia | LQTS | rs199472730 | 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 |