| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNS1 | R466H | Autism | Medium | 8 | 22495311 |
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 | TIASCFSVFAISFFALPAGILGSGFALKVQ>Q<KQRQKHFNRQIPA--AASLI-QTAWRCY-- | 382 |
| KCNQ2 | LLAATFTLIGVSFFALPAGILGSGFALKVQ>E<QHRQKHFEKRRNP--AAGLI-QSAWRFY-- | 347 |
| KCNQ3 | LIAATFSLIGVSFFALPAGILGSGLALKVQ>E<QHRQKHFEKRRKP--AAELI-QAAWRYY-- | 386 |
| KCNQ4 | VLAAGFALLGISFFALPAGILGSGFALKVQ>E<QHRQKHFEKRRMP--AANLI-QAAWRLY-- | 353 |
| KCNQ5 | LLSAGFALLGISFFALPAGILGSGFALKVQ>E<QHRQKHFEKRRNP--AANLI-QCVWRSY-- | 381 |
| KCNA1 | IVGSLCAIAGVLTIALPVPVIVSNFNYFYH>R<ETEGEEQAQLLH-----VS--SP-NLAS-- | 437 |
| KCNA10 | IVGTLCAIAGVLTIALPVPVIVSNFNYFYH>R<ETENEEKQNIPGEIERI------------- | 483 |
| KCNA2 | IVGSLCAIAGVLTIALPVPVIVSNFNYFYH>R<ETEGEEQAQYLQ-----VT--SCPKIPS-- | 440 |
| KCNA3 | IVGSLCAIAGVLTIALPVPVIVSNFNYFYH>R<ETEGEEQSQYMH-----VG--SCQHLSS-S | 511 |
| KCNA4 | IVGSLCAIAGVLTIALPVPVIVSNFNYFYH>R<ETENEEQTQLTQ-----NAV-SCPYLPS-N | 592 |
| KCNA5 | IVGSLCAIAGVLTIALPVPVIVSNFNYFYH>R<ETDHEEPAVLKEE--QGTQS-QGPGLDR-G | 551 |
| KCNA6 | IVGSLCAIAGVLTIALPVPVIVSNFNYFYH>R<ETEQEEQGQYTHV-------------TC-G | 483 |
| KCNA7 | IVGSLCAIAGVLTISLPVPVIVSNFSYFYH>R<ETEGEEAGMFSHV-------------DM-Q | 419 |
| KCNB1 | IVGGLCCIAGVLVIALPIPIIVNNFSEFYK>E<QKRQEKAIKRREA--LERA--KRNG---SI | 445 |
| KCNB2 | IVGGLCCIAGVLVIALPIPIIVNNFSEFYK>E<QKRQEKAIKRREA--LERA--KRNG---SI | 449 |
| KCNC1 | LVGALCALAGVLTIAMPVPVIVNNFGMYYS>L<AMAKQKLPKKKKK--HIPR--PPQLGSP-- | 469 |
| KCNC2 | LVGALCALAGVLTIAMPVPVIVNNFGMYYS>L<AMAKQKLPRKRKK--HIPP--APQASSP-- | 506 |
| KCNC3 | LVGALCALAGVLTIAMPVPVIVNNFGMYYS>L<AMAKQKLPKKKNK--HIPR--PPQPGSP-- | 572 |
| KCNC4 | LVGALCALAGVLTIAMPVPVIVNNFGMYYS>L<AMAKQKLPKKRKK--HVPR--PAQLESP-- | 505 |
| KCND1 | IFGSICSLSGVLVIALPVPVIVSNFSRIYH>Q<NQRADKRRAQQKV--RLARIRLAKSGTT-- | 443 |
| KCND2 | IFGSICSLSGVLVIALPVPVIVSNFSRIYH>Q<NQRADKRRAQKKA--RLARIRAAKSGSA-- | 441 |
| KCND3 | IFGSICSLSGVLVIALPVPVIVSNFSRIYH>Q<NQRADKRRAQKKA--RLARIRVAKTGSS-- | 438 |
| KCNF1 | LNAAISFLCGVIAIALPIHPIINNFVRYYN>K<QRVLETAAKHELE--LMEL--N------SS | 435 |
| KCNG1 | VVALSSILSGILLMAFPVTSIFHTFSRSYL>E<LKQEQERVMFRRA--QFLI----K-TKSQL | 492 |
| KCNG2 | VVALSSILSGILLMAFPVTSIFHTFSRSYS>E<LKEQQQRAASPEP--ALQE----D-STHSA | 437 |
| KCNG3 | ILGGVCVVSGIVLLALPITFIYHSFVQCYH>E<LKFRSARYSR-----------------SLS | 431 |
| KCNG4 | MVALSSILSGILIMAFPATSIFHTFSHSYL>E<LKKEQEQLQARLR--HLQN----T-GPASE | 486 |
| KCNS1 | LAASGCILGGILVVALPITIIFNKFSHFYR>R<QKALEAAVRNSNH--QEFE--D------LL | 486 |
| KCNS2 | LTASACILAGILVVVLPITLIFNKFSHFYR>R<QKQLESAMRSCDF--GDGM--K------EV | 439 |
| KCNS3 | LIASTCIICGILVVALPITIIFNKFSKYYQ>K<QKDIDVDQCSEDA--PEKC--H------EL | 435 |
| KCNV1 | IVAFMCILSGILVLALPIAIINDRFSACYF>T<LKLKEAAVRQREA--LKKL--TKNIATDSY | 463 |
| KCNV2 | FFAFLCIAFGIILNGMPISILYNKFSDYYS>K<LKAYEYTTIRRER--GEVN--F------MQ | 522 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q357H | c.1071G>? | Inherited Arrhythmia | LQTS | 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 | ||
| p.Q357R | c.1070A>G | Inherited Arrhythmia | LQTS | rs199473405 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| Inherited Arrhythmia | LQTS | Functional effects of a KCNQ1 mutation associated with the long QT syndrome. Cardiovasc Res. 2006 70(3):466-74. 16564513 | |||
| Inherited Arrhythmia | LQTS | Arrhythmia formation in subclinical ("silent") long QT syndrome requires multiple insults: quantitative mechanistic study using the KCNQ1 mutation Q357R as example. Heart Rhythm. 2012 9(2):275-82. 21952006 | |||
| Inherited Arrhythmia | LQTS | Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks). Proc Natl Acad Sci U S A. 2013 110(47):18922-7. doi: 10.1073/pnas.1315649110. 24190995 | |||