No paralogue variants have been mapped to residue 292 for KCNQ1.
| KCNQ1 | YIGFLGLIFSSYFVYLAEKDAVN-----ES>G<RVEFGSYADALWWGVVTVTTIGYGDKVPQT | 322 |
| KCNQ2 | YIGFLCLILASFLVYLAEKGE--------->-<NDHFDTYADALWWGLITLTTIGYGDKYPQT | 287 |
| KCNQ3 | YIGFLTLILSSFLVYLVEKDVPEVDAQGEE>M<KEEFETYADALWWGLITLATIGYGDKTPKT | 326 |
| KCNQ4 | YIGFLVLIFASFLVYLAEKDA--------->-<NSDFSSYADSLWWGTITLTTIGYGDKTPHT | 293 |
| KCNQ5 | YIGFLVLIFSSFLVYLVEKDA--------->-<NKEFSTYADALWWGTITLTTIGYGDKTPLT | 321 |
| KCNA1 | FFLFIGVILFSSAVYFAEAEE--------->A<ESHFSSIPDAFWWAVVSMTTVGYGDMYPVT | 382 |
| KCNA10 | FFLFIGVILFSSAVYFAEVDE--------->P<ESHFSSIPDGFWWAVVTMTTVGYGDMCPTT | 431 |
| KCNA2 | FFLFIGVILFSSAVYFAEADE--------->R<ESQFPSIPDAFWWAVVSMTTVGYGDMVPTT | 384 |
| KCNA3 | FFLFIGVILFSSAVYFAEADD--------->P<TSGFSSIPDAFWWAVVTMTTVGYGDMHPVT | 454 |
| KCNA4 | FFLFIGVILFSSAVYFAEADE--------->P<TTHFQSIPDAFWWAVVTMTTVGYGDMKPIT | 534 |
| KCNA5 | FFLFIGVILFSSAVYFAEADN--------->Q<GTHFSSIPDAFWWAVVTMTTVGYGDMRPIT | 490 |
| KCNA6 | FFLFIGVILFSSAVYFAEADD--------->D<DSLFPSIPDAFWWAVVTMTTVGYGDMYPMT | 432 |
| KCNA7 | FFLFIGVVLFSSAVYFAEVDR--------->V<DSHFTSIPESFWWAVVTMTTVGYGDMAPVT | 368 |
| KCNB1 | LFLAMGIMIFSSLVFFAEKDE--------->D<DTKFKSIPASFWWATITMTTVGYGDIYPKT | 387 |
| KCNB2 | LFLAMGIMIFSSLVFFAEKDE--------->D<ATKFTSIPASFWWATITMTTVGYGDIYPKT | 391 |
| KCNC1 | IFLALGVLIFATMIYYAERIGAQPNDPSAS>E<HTHFKNIPIGFWWAVVTMTTLGYGDMYPQT | 410 |
| KCNC2 | IFLALGVLIFATMIYYAERVGAQPNDPSAS>E<HTQFKNIPIGFWWAVVTMTTLGYGDMYPQT | 447 |
| KCNC3 | IFLALGVLIFATMIYYAERIGADPDDILGS>N<HTYFKNIPIGFWWAVVTMTTLGYGDMYPKT | 513 |
| KCNC4 | IFLALGVLIFATMIYYAERIGARPSDPRGN>D<HTDFKNIPIGFWWAVVTMTTLGYGDMYPKT | 446 |
| KCND1 | FSLTMAIIIFATVMFYAEKGT--------->N<KTNFTSIPAAFWYTIVTMTTLGYGDMVPST | 382 |
| KCND2 | FSLTMAIIIFATVMFYAEKGS--------->S<ASKFTSIPAAFWYTIVTMTTLGYGDMVPKT | 380 |
| KCND3 | FSLTMAIIIFATVMFYAEKGS--------->S<ASKFTSIPASFWYTIVTMTTLGYGDMVPKT | 377 |
| KCNF1 | MYLAVGIFVFSALGYTMEQSH--------->P<ETLFKSIPQSFWWAIITMTTVGYGDIYPKT | 380 |
| KCNG1 | LFLCVAIALFAPLLYVIENEM-----A--->D<SPEFTSIPACYWWAVITMTTVGYGDMVPRS | 434 |
| KCNG2 | LFLCVAMALFAPLVHLAEREL-----G--->A<RRDFSSVPASYWWAVISMTTVGYGDMVPRS | 379 |
| KCNG3 | VFICVAMAIFSALSQLLEHGL-----DLET>S<NKDFTSIPAACWWVIISMTTVGYGDMYPIT | 383 |
| KCNG4 | LFLAVAITLFSPLVYVAEKES-----G--->R<VLEFTSIPASYWWAIISMTTVGYGDMVPRS | 428 |
| KCNS1 | LYLAVGVSVFSGVAYTAEKEE--------->-<DVGFNTIPACWWWGTVSMTTVGYGDVVPVT | 431 |
| KCNS2 | LYLSVGISIFSVVAYTIEKEE--------->-<NEGLATIPACWWWATVSMTTVGYGDVVPGT | 384 |
| KCNS3 | LFLSVGISIFSVLIYSVEKDD--------->H<TSSLTSIPICWWWATISMTTVGYGDTHPVT | 380 |
| KCNV1 | LFLSVGISIFSTVEYFAEQSI--------->P<DTTFTSVPCAWWWATTSMTTVGYGDIRPDT | 402 |
| KCNV2 | LFIAMGIFTFSAAVYSVEHDV--------->P<STNFTTIPHSWWWAAVSISTVGYGDMYPET | 467 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G292D | c.875G>A | Inherited Arrhythmia | LQTS | rs199472736 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 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 | 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 | |||