No paralogue variants have been mapped to residue 287 for KCNQ1.
| KCNQ1 | IHRQELITTLYIGFLGLIFSSYFVYLAEKD>A<VN-----ESGRVEFGSYADALWWGVVTVTT | 312 |
| KCNQ2 | AHSKELVTAWYIGFLCLILASFLVYLAEKG>E<----------NDHFDTYADALWWGLITLTT | 277 |
| KCNQ3 | AHSKELITAWYIGFLTLILSSFLVYLVEKD>V<PEVDAQGEEMKEEFETYADALWWGLITLAT | 316 |
| KCNQ4 | AHSKELITAWYIGFLVLIFASFLVYLAEKD>A<----------NSDFSSYADSLWWGTITLTT | 283 |
| KCNQ5 | AHSKELITAWYIGFLVLIFSSFLVYLVEKD>A<----------NKEFSTYADALWWGTITLTT | 311 |
| KCNA1 | ASMRELGLLIFFLFIGVILFSSAVYFAEAE>E<---------AESHFSSIPDAFWWAVVSMTT | 372 |
| KCNA10 | ASMRELGLLIFFLFIGVILFSSAVYFAEVD>E<---------PESHFSSIPDGFWWAVVTMTT | 421 |
| KCNA2 | ASMRELGLLIFFLFIGVILFSSAVYFAEAD>E<---------RESQFPSIPDAFWWAVVSMTT | 374 |
| KCNA3 | ASMRELGLLIFFLFIGVILFSSAVYFAEAD>D<---------PTSGFSSIPDAFWWAVVTMTT | 444 |
| KCNA4 | ASMRELGLLIFFLFIGVILFSSAVYFAEAD>E<---------PTTHFQSIPDAFWWAVVTMTT | 524 |
| KCNA5 | ASMRELGLLIFFLFIGVILFSSAVYFAEAD>N<---------QGTHFSSIPDAFWWAVVTMTT | 480 |
| KCNA6 | ASMRELGLLIFFLFIGVILFSSAVYFAEAD>D<---------DDSLFPSIPDAFWWAVVTMTT | 422 |
| KCNA7 | ASMRELGLLIFFLFIGVVLFSSAVYFAEVD>R<---------VDSHFTSIPESFWWAVVTMTT | 358 |
| KCNB1 | RSYNELGLLILFLAMGIMIFSSLVFFAEKD>E<---------DDTKFKSIPASFWWATITMTT | 377 |
| KCNB2 | RSYNELGLLILFLAMGIMIFSSLVFFAEKD>E<---------DATKFTSIPASFWWATITMTT | 381 |
| KCNC1 | ASTNEFLLLIIFLALGVLIFATMIYYAERI>G<AQPNDPSASEHTHFKNIPIGFWWAVVTMTT | 400 |
| KCNC2 | ASTNEFLLLIIFLALGVLIFATMIYYAERV>G<AQPNDPSASEHTQFKNIPIGFWWAVVTMTT | 437 |
| KCNC3 | ASTNEFLLLIIFLALGVLIFATMIYYAERI>G<ADPDDILGSNHTYFKNIPIGFWWAVVTMTT | 503 |
| KCNC4 | ASTNEFLLLIIFLALGVLIFATMIYYAERI>G<ARPSDPRGNDHTDFKNIPIGFWWAVVTMTT | 436 |
| KCND1 | SCASELGFLLFSLTMAIIIFATVMFYAEKG>T<---------NKTNFTSIPAAFWYTIVTMTT | 372 |
| KCND2 | SCASELGFLLFSLTMAIIIFATVMFYAEKG>S<---------SASKFTSIPAAFWYTIVTMTT | 370 |
| KCND3 | SCASELGFLLFSLTMAIIIFATVMFYAEKG>S<---------SASKFTSIPASFWYTIVTMTT | 367 |
| KCNF1 | RSFKELGLLLMYLAVGIFVFSALGYTMEQS>H<---------PETLFKSIPQSFWWAIITMTT | 370 |
| KCNG1 | RCTREFGLLLLFLCVAIALFAPLLYVIENE>M<-----A---DSPEFTSIPACYWWAVITMTT | 424 |
| KCNG2 | RCAREFGLLLLFLCVAMALFAPLVHLAERE>L<-----G---ARRDFSSVPASYWWAVISMTT | 369 |
| KCNG3 | RCYREMVMLLVFICVAMAIFSALSQLLEHG>L<-----DLETSNKDFTSIPAACWWVIISMTT | 373 |
| KCNG4 | RCTREFGLLLLFLAVAITLFSPLVYVAEKE>S<-----G---RVLEFTSIPASYWWAIISMTT | 418 |
| KCNS1 | HSYREVGILLLYLAVGVSVFSGVAYTAEKE>E<----------DVGFNTIPACWWWGTVSMTT | 421 |
| KCNS2 | YSYKEVGLLLLYLSVGISIFSVVAYTIEKE>E<----------NEGLATIPACWWWATVSMTT | 374 |
| KCNS3 | HSYHEVGLLLLFLSVGISIFSVLIYSVEKD>D<---------HTSSLTSIPICWWWATISMTT | 370 |
| KCNV1 | QCYEEVGLLLLFLSVGISIFSTVEYFAEQS>I<---------PDTTFTSVPCAWWWATTSMTT | 392 |
| KCNV2 | QCYQQVGCLLLFIAMGIFTFSAAVYSVEHD>V<---------PSTNFTTIPHSWWWAAVSIST | 457 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A287E | c.860C>A | Inherited Arrhythmia | LQTS | rs199472735 | SIFT: tolerated Polyphen: possibly 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.A287T | c.859G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches. J Cardiovasc Transl Res. 2013 6(1):94-103. doi: 10.1007/s12265-012-9401-8. 22956155 | ||
| Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | |||
| p.A287S | c.859G>T | Putative Benign | SIFT: Polyphen: | ||