| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCND3 | M373I | Spinocerebellar ataxia 19 | Medium | 9 | 23280838, 25854634 |
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 | --ESGRVEFGSYADALWWGVVTVTTIGYGD>K<VPQTWVGKTIASCFSVFAISFFALPAGILG | 348 |
| KCNQ2 | -----NDHFDTYADALWWGLITLTTIGYGD>K<YPQTWNGRLLAATFTLIGVSFFALPAGILG | 313 |
| KCNQ3 | QGEEMKEEFETYADALWWGLITLATIGYGD>K<TPKTWEGRLIAATFSLIGVSFFALPAGILG | 352 |
| KCNQ4 | -----NSDFSSYADSLWWGTITLTTIGYGD>K<TPHTWLGRVLAAGFALLGISFFALPAGILG | 319 |
| KCNQ5 | -----NKEFSTYADALWWGTITLTTIGYGD>K<TPLTWLGRLLSAGFALLGISFFALPAGILG | 347 |
| KCNA1 | ----AESHFSSIPDAFWWAVVSMTTVGYGD>M<YPVTIGGKIVGSLCAIAGVLTIALPVPVIV | 408 |
| KCNA10 | ----PESHFSSIPDGFWWAVVTMTTVGYGD>M<CPTTPGGKIVGTLCAIAGVLTIALPVPVIV | 457 |
| KCNA2 | ----RESQFPSIPDAFWWAVVSMTTVGYGD>M<VPTTIGGKIVGSLCAIAGVLTIALPVPVIV | 410 |
| KCNA3 | ----PTSGFSSIPDAFWWAVVTMTTVGYGD>M<HPVTIGGKIVGSLCAIAGVLTIALPVPVIV | 480 |
| KCNA4 | ----PTTHFQSIPDAFWWAVVTMTTVGYGD>M<KPITVGGKIVGSLCAIAGVLTIALPVPVIV | 560 |
| KCNA5 | ----QGTHFSSIPDAFWWAVVTMTTVGYGD>M<RPITVGGKIVGSLCAIAGVLTIALPVPVIV | 516 |
| KCNA6 | ----DDSLFPSIPDAFWWAVVTMTTVGYGD>M<YPMTVGGKIVGSLCAIAGVLTIALPVPVIV | 458 |
| KCNA7 | ----VDSHFTSIPESFWWAVVTMTTVGYGD>M<APVTVGGKIVGSLCAIAGVLTISLPVPVIV | 394 |
| KCNB1 | ----DDTKFKSIPASFWWATITMTTVGYGD>I<YPKTLLGKIVGGLCCIAGVLVIALPIPIIV | 413 |
| KCNB2 | ----DATKFTSIPASFWWATITMTTVGYGD>I<YPKTLLGKIVGGLCCIAGVLVIALPIPIIV | 417 |
| KCNC1 | PSASEHTHFKNIPIGFWWAVVTMTTLGYGD>M<YPQTWSGMLVGALCALAGVLTIAMPVPVIV | 436 |
| KCNC2 | PSASEHTQFKNIPIGFWWAVVTMTTLGYGD>M<YPQTWSGMLVGALCALAGVLTIAMPVPVIV | 473 |
| KCNC3 | ILGSNHTYFKNIPIGFWWAVVTMTTLGYGD>M<YPKTWSGMLVGALCALAGVLTIAMPVPVIV | 539 |
| KCNC4 | PRGNDHTDFKNIPIGFWWAVVTMTTLGYGD>M<YPKTWSGMLVGALCALAGVLTIAMPVPVIV | 472 |
| KCND1 | ----NKTNFTSIPAAFWYTIVTMTTLGYGD>M<VPSTIAGKIFGSICSLSGVLVIALPVPVIV | 408 |
| KCND2 | ----SASKFTSIPAAFWYTIVTMTTLGYGD>M<VPKTIAGKIFGSICSLSGVLVIALPVPVIV | 406 |
| KCND3 | ----SASKFTSIPASFWYTIVTMTTLGYGD>M<VPKTIAGKIFGSICSLSGVLVIALPVPVIV | 403 |
| KCNF1 | ----PETLFKSIPQSFWWAIITMTTVGYGD>I<YPKTTLGKLNAAISFLCGVIAIALPIHPII | 406 |
| KCNG1 | A---DSPEFTSIPACYWWAVITMTTVGYGD>M<VPRSTPGQVVALSSILSGILLMAFPVTSIF | 460 |
| KCNG2 | G---ARRDFSSVPASYWWAVISMTTVGYGD>M<VPRSLPGQVVALSSILSGILLMAFPVTSIF | 405 |
| KCNG3 | DLETSNKDFTSIPAACWWVIISMTTVGYGD>M<YPITVPGRILGGVCVVSGIVLLALPITFIY | 409 |
| KCNG4 | G---RVLEFTSIPASYWWAIISMTTVGYGD>M<VPRSVPGQMVALSSILSGILIMAFPATSIF | 454 |
| KCNS1 | -----DVGFNTIPACWWWGTVSMTTVGYGD>V<VPVTVAGKLAASGCILGGILVVALPITIIF | 457 |
| KCNS2 | -----NEGLATIPACWWWATVSMTTVGYGD>V<VPGTTAGKLTASACILAGILVVVLPITLIF | 410 |
| KCNS3 | ----HTSSLTSIPICWWWATISMTTVGYGD>T<HPVTLAGKLIASTCIICGILVVALPITIIF | 406 |
| KCNV1 | ----PDTTFTSVPCAWWWATTSMTTVGYGD>I<RPDTTTGKIVAFMCILSGILVLALPIAIIN | 428 |
| KCNV2 | ----PSTNFTTIPHSWWWAAVSISTVGYGD>M<YPETHLGRFFAFLCIAFGIILNGMPISILY | 493 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K318N | c.954G>C | Inherited Arrhythmia | LQTS | rs199472752 | 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 | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| p.Lys318Thr | c.953A>C | Unknown | SIFT: Polyphen: | ||