No paralogue variants have been mapped to residue 290 for KCNQ1.
| KCNQ1 | TLYIGFLGLIFSSYFVYLAEKDAVN----->E<SGRVEFGSYADALWWGVVTVTTIGYGDKVP | 320 |
| KCNQ2 | AWYIGFLCLILASFLVYLAEKGE------->-<--NDHFDTYADALWWGLITLTTIGYGDKYP | 285 |
| KCNQ3 | AWYIGFLTLILSSFLVYLVEKDVPEVDAQG>E<EMKEEFETYADALWWGLITLATIGYGDKTP | 324 |
| KCNQ4 | AWYIGFLVLIFASFLVYLAEKDA------->-<--NSDFSSYADSLWWGTITLTTIGYGDKTP | 291 |
| KCNQ5 | AWYIGFLVLIFSSFLVYLVEKDA------->-<--NKEFSTYADALWWGTITLTTIGYGDKTP | 319 |
| KCNA1 | LIFFLFIGVILFSSAVYFAEAEE------->-<-AESHFSSIPDAFWWAVVSMTTVGYGDMYP | 380 |
| KCNA10 | LIFFLFIGVILFSSAVYFAEVDE------->-<-PESHFSSIPDGFWWAVVTMTTVGYGDMCP | 429 |
| KCNA2 | LIFFLFIGVILFSSAVYFAEADE------->-<-RESQFPSIPDAFWWAVVSMTTVGYGDMVP | 382 |
| KCNA3 | LIFFLFIGVILFSSAVYFAEADD------->-<-PTSGFSSIPDAFWWAVVTMTTVGYGDMHP | 452 |
| KCNA4 | LIFFLFIGVILFSSAVYFAEADE------->-<-PTTHFQSIPDAFWWAVVTMTTVGYGDMKP | 532 |
| KCNA5 | LIFFLFIGVILFSSAVYFAEADN------->-<-QGTHFSSIPDAFWWAVVTMTTVGYGDMRP | 488 |
| KCNA6 | LIFFLFIGVILFSSAVYFAEADD------->-<-DDSLFPSIPDAFWWAVVTMTTVGYGDMYP | 430 |
| KCNA7 | LIFFLFIGVVLFSSAVYFAEVDR------->-<-VDSHFTSIPESFWWAVVTMTTVGYGDMAP | 366 |
| KCNB1 | LILFLAMGIMIFSSLVFFAEKDE------->-<-DDTKFKSIPASFWWATITMTTVGYGDIYP | 385 |
| KCNB2 | LILFLAMGIMIFSSLVFFAEKDE------->-<-DATKFTSIPASFWWATITMTTVGYGDIYP | 389 |
| KCNC1 | LIIFLALGVLIFATMIYYAERIGAQPNDPS>A<SEHTHFKNIPIGFWWAVVTMTTLGYGDMYP | 408 |
| KCNC2 | LIIFLALGVLIFATMIYYAERVGAQPNDPS>A<SEHTQFKNIPIGFWWAVVTMTTLGYGDMYP | 445 |
| KCNC3 | LIIFLALGVLIFATMIYYAERIGADPDDIL>G<SNHTYFKNIPIGFWWAVVTMTTLGYGDMYP | 511 |
| KCNC4 | LIIFLALGVLIFATMIYYAERIGARPSDPR>G<NDHTDFKNIPIGFWWAVVTMTTLGYGDMYP | 444 |
| KCND1 | LLFSLTMAIIIFATVMFYAEKGT------->-<-NKTNFTSIPAAFWYTIVTMTTLGYGDMVP | 380 |
| KCND2 | LLFSLTMAIIIFATVMFYAEKGS------->-<-SASKFTSIPAAFWYTIVTMTTLGYGDMVP | 378 |
| KCND3 | LLFSLTMAIIIFATVMFYAEKGS------->-<-SASKFTSIPASFWYTIVTMTTLGYGDMVP | 375 |
| KCNF1 | LLMYLAVGIFVFSALGYTMEQSH------->-<-PETLFKSIPQSFWWAIITMTTVGYGDIYP | 378 |
| KCNG1 | LLLFLCVAIALFAPLLYVIENEM-----A->-<-DSPEFTSIPACYWWAVITMTTVGYGDMVP | 432 |
| KCNG2 | LLLFLCVAMALFAPLVHLAEREL-----G->-<-ARRDFSSVPASYWWAVISMTTVGYGDMVP | 377 |
| KCNG3 | LLVFICVAMAIFSALSQLLEHGL-----DL>E<TSNKDFTSIPAACWWVIISMTTVGYGDMYP | 381 |
| KCNG4 | LLLFLAVAITLFSPLVYVAEKES-----G->-<-RVLEFTSIPASYWWAIISMTTVGYGDMVP | 426 |
| KCNS1 | LLLYLAVGVSVFSGVAYTAEKEE------->-<--DVGFNTIPACWWWGTVSMTTVGYGDVVP | 429 |
| KCNS2 | LLLYLSVGISIFSVVAYTIEKEE------->-<--NEGLATIPACWWWATVSMTTVGYGDVVP | 382 |
| KCNS3 | LLLFLSVGISIFSVLIYSVEKDD------->-<-HTSSLTSIPICWWWATISMTTVGYGDTHP | 378 |
| KCNV1 | LLLFLSVGISIFSTVEYFAEQSI------->-<-PDTTFTSVPCAWWWATTSMTTVGYGDIRP | 400 |
| KCNV2 | LLLFIAMGIFTFSAAVYSVEHDV------->-<-PSTNFTTIPHSWWWAAVSISTVGYGDMYP | 465 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E290K | c.868G>A | Inherited Arrhythmia | LQTS | rs199473464 | SIFT: tolerated Polyphen: benign |
| Reports | 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 | ||