No paralogue variants have been mapped to residue 353 for KCNQ1.
| KCNQ1 | WVGKTIASCFSVFAISFFALPAGILGSGFA>L<KVQQKQRQKHFNRQIPA--AASLI-QTAWR | 380 |
| KCNQ2 | WNGRLLAATFTLIGVSFFALPAGILGSGFA>L<KVQEQHRQKHFEKRRNP--AAGLI-QSAWR | 345 |
| KCNQ3 | WEGRLIAATFSLIGVSFFALPAGILGSGLA>L<KVQEQHRQKHFEKRRKP--AAELI-QAAWR | 384 |
| KCNQ4 | WLGRVLAAGFALLGISFFALPAGILGSGFA>L<KVQEQHRQKHFEKRRMP--AANLI-QAAWR | 351 |
| KCNQ5 | WLGRLLSAGFALLGISFFALPAGILGSGFA>L<KVQEQHRQKHFEKRRNP--AANLI-QCVWR | 379 |
| KCNA1 | IGGKIVGSLCAIAGVLTIALPVPVIVSNFN>Y<FYHRETEGEEQAQLLH-----VS--SP-NL | 435 |
| KCNA10 | PGGKIVGTLCAIAGVLTIALPVPVIVSNFN>Y<FYHRETENEEKQNIPGEIERI--------- | 483 |
| KCNA2 | IGGKIVGSLCAIAGVLTIALPVPVIVSNFN>Y<FYHRETEGEEQAQYLQ-----VT--SCPKI | 438 |
| KCNA3 | IGGKIVGSLCAIAGVLTIALPVPVIVSNFN>Y<FYHRETEGEEQSQYMH-----VG--SCQHL | 508 |
| KCNA4 | VGGKIVGSLCAIAGVLTIALPVPVIVSNFN>Y<FYHRETENEEQTQLTQ-----NAV-SCPYL | 589 |
| KCNA5 | VGGKIVGSLCAIAGVLTIALPVPVIVSNFN>Y<FYHRETDHEEPAVLKEE--QGTQS-QGPGL | 548 |
| KCNA6 | VGGKIVGSLCAIAGVLTIALPVPVIVSNFN>Y<FYHRETEQEEQGQYTHV------------- | 480 |
| KCNA7 | VGGKIVGSLCAIAGVLTISLPVPVIVSNFS>Y<FYHRETEGEEAGMFSHV------------- | 416 |
| KCNB1 | LLGKIVGGLCCIAGVLVIALPIPIIVNNFS>E<FYKEQKRQEKAIKRREA--LERA--KRNG- | 443 |
| KCNB2 | LLGKIVGGLCCIAGVLVIALPIPIIVNNFS>E<FYKEQKRQEKAIKRREA--LERA--KRNG- | 447 |
| KCNC1 | WSGMLVGALCALAGVLTIAMPVPVIVNNFG>M<YYSLAMAKQKLPKKKKK--HIPR--PPQLG | 467 |
| KCNC2 | WSGMLVGALCALAGVLTIAMPVPVIVNNFG>M<YYSLAMAKQKLPRKRKK--HIPP--APQAS | 504 |
| KCNC3 | WSGMLVGALCALAGVLTIAMPVPVIVNNFG>M<YYSLAMAKQKLPKKKNK--HIPR--PPQPG | 570 |
| KCNC4 | WSGMLVGALCALAGVLTIAMPVPVIVNNFG>M<YYSLAMAKQKLPKKRKK--HVPR--PAQLE | 503 |
| KCND1 | IAGKIFGSICSLSGVLVIALPVPVIVSNFS>R<IYHQNQRADKRRAQQKV--RLARIRLAKSG | 441 |
| KCND2 | IAGKIFGSICSLSGVLVIALPVPVIVSNFS>R<IYHQNQRADKRRAQKKA--RLARIRAAKSG | 439 |
| KCND3 | IAGKIFGSICSLSGVLVIALPVPVIVSNFS>R<IYHQNQRADKRRAQKKA--RLARIRVAKTG | 436 |
| KCNF1 | TLGKLNAAISFLCGVIAIALPIHPIINNFV>R<YYNKQRVLETAAKHELE--LMEL--N---- | 433 |
| KCNG1 | TPGQVVALSSILSGILLMAFPVTSIFHTFS>R<SYLELKQEQERVMFRRA--QFLI----K-T | 488 |
| KCNG2 | LPGQVVALSSILSGILLMAFPVTSIFHTFS>R<SYSELKEQQQRAASPEP--ALQE----D-S | 433 |
| KCNG3 | VPGRILGGVCVVSGIVLLALPITFIYHSFV>Q<CYHELKFRSARYSR---------------- | 428 |
| KCNG4 | VPGQMVALSSILSGILIMAFPATSIFHTFS>H<SYLELKKEQEQLQARLR--HLQN----T-G | 482 |
| KCNS1 | VAGKLAASGCILGGILVVALPITIIFNKFS>H<FYRRQKALEAAVRNSNH--QEFE--D---- | 484 |
| KCNS2 | TAGKLTASACILAGILVVVLPITLIFNKFS>H<FYRRQKQLESAMRSCDF--GDGM--K---- | 437 |
| KCNS3 | LAGKLIASTCIICGILVVALPITIIFNKFS>K<YYQKQKDIDVDQCSEDA--PEKC--H---- | 433 |
| KCNV1 | TTGKIVAFMCILSGILVLALPIAIINDRFS>A<CYFTLKLKEAAVRQREA--LKKL--TKNIA | 459 |
| KCNV2 | HLGRFFAFLCIAFGIILNGMPISILYNKFS>D<YYSKLKAYEYTTIRRER--GEVN--F---- | 520 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L353P | c.1058T>C | Inherited Arrhythmia | LQTS | rs199473403 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036 | ||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | |||