| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNS2 | D379E | Essential tremor, early-onset | High | 9 | 26508575 |
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 | ---ESGRVEFGSYADALWWGVVTVTTIGYG>D<KVPQTWVGKTIASCFSVFAISFFALPAGIL | 347 |
| KCNQ2 | ------NDHFDTYADALWWGLITLTTIGYG>D<KYPQTWNGRLLAATFTLIGVSFFALPAGIL | 312 |
| KCNQ3 | AQGEEMKEEFETYADALWWGLITLATIGYG>D<KTPKTWEGRLIAATFSLIGVSFFALPAGIL | 351 |
| KCNQ4 | ------NSDFSSYADSLWWGTITLTTIGYG>D<KTPHTWLGRVLAAGFALLGISFFALPAGIL | 318 |
| KCNQ5 | ------NKEFSTYADALWWGTITLTTIGYG>D<KTPLTWLGRLLSAGFALLGISFFALPAGIL | 346 |
| KCNA1 | -----AESHFSSIPDAFWWAVVSMTTVGYG>D<MYPVTIGGKIVGSLCAIAGVLTIALPVPVI | 407 |
| KCNA10 | -----PESHFSSIPDGFWWAVVTMTTVGYG>D<MCPTTPGGKIVGTLCAIAGVLTIALPVPVI | 456 |
| KCNA2 | -----RESQFPSIPDAFWWAVVSMTTVGYG>D<MVPTTIGGKIVGSLCAIAGVLTIALPVPVI | 409 |
| KCNA3 | -----PTSGFSSIPDAFWWAVVTMTTVGYG>D<MHPVTIGGKIVGSLCAIAGVLTIALPVPVI | 479 |
| KCNA4 | -----PTTHFQSIPDAFWWAVVTMTTVGYG>D<MKPITVGGKIVGSLCAIAGVLTIALPVPVI | 559 |
| KCNA5 | -----QGTHFSSIPDAFWWAVVTMTTVGYG>D<MRPITVGGKIVGSLCAIAGVLTIALPVPVI | 515 |
| KCNA6 | -----DDSLFPSIPDAFWWAVVTMTTVGYG>D<MYPMTVGGKIVGSLCAIAGVLTIALPVPVI | 457 |
| KCNA7 | -----VDSHFTSIPESFWWAVVTMTTVGYG>D<MAPVTVGGKIVGSLCAIAGVLTISLPVPVI | 393 |
| KCNB1 | -----DDTKFKSIPASFWWATITMTTVGYG>D<IYPKTLLGKIVGGLCCIAGVLVIALPIPII | 412 |
| KCNB2 | -----DATKFTSIPASFWWATITMTTVGYG>D<IYPKTLLGKIVGGLCCIAGVLVIALPIPII | 416 |
| KCNC1 | DPSASEHTHFKNIPIGFWWAVVTMTTLGYG>D<MYPQTWSGMLVGALCALAGVLTIAMPVPVI | 435 |
| KCNC2 | DPSASEHTQFKNIPIGFWWAVVTMTTLGYG>D<MYPQTWSGMLVGALCALAGVLTIAMPVPVI | 472 |
| KCNC3 | DILGSNHTYFKNIPIGFWWAVVTMTTLGYG>D<MYPKTWSGMLVGALCALAGVLTIAMPVPVI | 538 |
| KCNC4 | DPRGNDHTDFKNIPIGFWWAVVTMTTLGYG>D<MYPKTWSGMLVGALCALAGVLTIAMPVPVI | 471 |
| KCND1 | -----NKTNFTSIPAAFWYTIVTMTTLGYG>D<MVPSTIAGKIFGSICSLSGVLVIALPVPVI | 407 |
| KCND2 | -----SASKFTSIPAAFWYTIVTMTTLGYG>D<MVPKTIAGKIFGSICSLSGVLVIALPVPVI | 405 |
| KCND3 | -----SASKFTSIPASFWYTIVTMTTLGYG>D<MVPKTIAGKIFGSICSLSGVLVIALPVPVI | 402 |
| KCNF1 | -----PETLFKSIPQSFWWAIITMTTVGYG>D<IYPKTTLGKLNAAISFLCGVIAIALPIHPI | 405 |
| KCNG1 | -A---DSPEFTSIPACYWWAVITMTTVGYG>D<MVPRSTPGQVVALSSILSGILLMAFPVTSI | 459 |
| KCNG2 | -G---ARRDFSSVPASYWWAVISMTTVGYG>D<MVPRSLPGQVVALSSILSGILLMAFPVTSI | 404 |
| KCNG3 | -DLETSNKDFTSIPAACWWVIISMTTVGYG>D<MYPITVPGRILGGVCVVSGIVLLALPITFI | 408 |
| KCNG4 | -G---RVLEFTSIPASYWWAIISMTTVGYG>D<MVPRSVPGQMVALSSILSGILIMAFPATSI | 453 |
| KCNS1 | ------DVGFNTIPACWWWGTVSMTTVGYG>D<VVPVTVAGKLAASGCILGGILVVALPITII | 456 |
| KCNS2 | ------NEGLATIPACWWWATVSMTTVGYG>D<VVPGTTAGKLTASACILAGILVVVLPITLI | 409 |
| KCNS3 | -----HTSSLTSIPICWWWATISMTTVGYG>D<THPVTLAGKLIASTCIICGILVVALPITII | 405 |
| KCNV1 | -----PDTTFTSVPCAWWWATTSMTTVGYG>D<IRPDTTTGKIVAFMCILSGILVLALPIAII | 427 |
| KCNV2 | -----PSTNFTTIPHSWWWAAVSISTVGYG>D<MYPETHLGRFFAFLCIAFGIILNGMPISIL | 492 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D317G | c.950A>G | Inherited Arrhythmia | LQTS | rs199472750 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | ||
| 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 | |||
| p.D317N | c.949G>A | Inherited Arrhythmia | LQTS | rs199472751 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet. 1997 6(11):1943-9. 9302275 | ||
| Inherited Arrhythmia | LQTS | Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat. 1998 11(2):158-65. 9482580 | |||
| Inherited Arrhythmia | LQTS | KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. Clin Genet. 2003 63(4):273-82. 12702160 | |||
| p.D317Y | c.949G>T | Inherited Arrhythmia | LQTS | rs199472751 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||