| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNA1 | A242P | Epilepsy partial and myokymia | Medium | 8 | 11026449, 23349320 |
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 | F-WMEIVLVVFFGTEYVVRLWSAGCRSKYV>G<LWGRLRFARKPISIIDLIVVVASMVVLCVG | 216 |
| KCNQ2 | Y-ILEIVTIVVFGVEYFVRIWAAGCCCRYR>G<WRGRLKFARKPFCVIDIMVLIASIAVLAAG | 186 |
| KCNQ3 | L-LLETFAIFIFGAEFALRIWAAGCCCRYK>G<WRGRLKFARKPLCMLDIFVLIASVPVVAVG | 216 |
| KCNQ4 | L-ILEFVMIVVFGLEYIVRVWSAGCCCRYR>G<WQGRFRFARKPFCVIDFIVFVASVAVIAAG | 192 |
| KCNQ5 | L-ILEFVMIVVFGLEFIIRIWSAGCCCRYR>G<WQGRLRFARKPFCVIDTIVLIASIAVVSAK | 220 |
| KCNA1 | F-IVETLCIIWFSFELVVR---------FF>A<CPSKTDFFKNIMNFIDIVAIIPYFITLGTE | 272 |
| KCNA10 | F-MVESTCIVWFTFELVLR---------FV>V<CPSKTDFFRNIMNIIDIISIIPYFATLITE | 322 |
| KCNA2 | F-IVETLCIIWFSFEFLVR---------FF>A<CPSKAGFFTNIMNIIDIVAIIPYFITLGTE | 273 |
| KCNA3 | F-VVETLCIIWFSFELLVR---------FF>A<CPSKATFSRNIMNLIDIVAIIPYFITLGTE | 346 |
| KCNA4 | F-IVETVCIVWFSFEFVVR---------CF>A<CPSQALFFKNIMNIIDIVSILPYFITLGTD | 422 |
| KCNA5 | F-IVETTCVIWFTFELLVR---------FF>A<CPSKAGFSRNIMNIIDVVAIFPYFITLGTE | 375 |
| KCNA6 | F-LVETLCIVWFTFELLVR---------FS>A<CPSKPAFFRNIMNIIDLVAIFPYFITLGTE | 314 |
| KCNA7 | F-VVETLCICWFSFELLVR---------LL>V<CPSKAIFFKNVMNLIDFVAILPYFVALGTE | 260 |
| KCNB1 | A-HVEAVCIAWFTMEYLLR---------FL>S<SPKKWKFFKGPLNAIDLLAILPYYVTIFLT | 280 |
| KCNB2 | A-HVEAVCIAWFTMEYLLR---------FL>S<SPNKWKFFKGPLNVIDLLAILPYYVTIFLT | 284 |
| KCNC1 | LTYIEGVCVVWFTFEFLMR---------VI>F<CPNKVEFIKNSLNIIDFVAILPFYLEVGLS | 296 |
| KCNC2 | LTYVEGVCVVWFTFEFLVR---------IV>F<SPNKLEFIKNLLNIIDFVAILPFYLEVGLS | 333 |
| KCNC3 | LTYVEGVCVVWFTFEFLMR---------IT>F<CPDKVEFLKSSLNIIDCVAILPFYLEVGLS | 399 |
| KCNC4 | LTYIEGVCVLWFTLEFLVR---------IV>C<CPDTLDFVKNLLNIIDFVAILPFYLEVGLS | 332 |
| KCND1 | F-CMDTACVLIFTGEYLLR---------LF>A<APSRCRFLRSVMSLIDVVAILPYYIGLLVP | 282 |
| KCND2 | F-CLDTACVMIFTVEYLLR---------LA>A<APSRYRFVRSVMSIIDVVAILPYYIGLVMT | 280 |
| KCND3 | F-CLDTACVMIFTVEYLLR---------LF>A<APSRYRFIRSVMSIIDVVAIMPYYIGLVMT | 277 |
| KCNF1 | E-NVETACIGWFTLEYLLR---------LF>S<SPNKLHFALSFMNIVDVLAILPFYVSLTLT | 273 |
| KCNG1 | F-IVESVCVGWFSLEFLLR---------LI>Q<APSKFAFLRSPLTLIDLVAILPYYITLLVD | 319 |
| KCNG2 | F-VLETVCVAWFSFEFLLR---------SL>Q<AESKCAFLRAPLNIIDILALLPFYVSLLLG | 269 |
| KCNG3 | G-IIEAICIGWFTAECIVR---------FI>V<SKNKCEFVKRPLNIIDLLAITPYYISVLMT | 272 |
| KCNG4 | F-IVETICVAWFSLEFCLR---------FV>Q<AQDKCQFFQGPLNIIDILAISPYYVSLAVS | 313 |
| KCNS1 | R-RLEYFCIAWFSFEVSSR---------LL>L<APSTRNFFCHPLNLIDIVSVLPFYLTLLAG | 323 |
| KCNS2 | E-IVEHFGIAWFTFELVAR---------FA>V<APDFLKFFKNALNLIDLMSIVPFYITLVVN | 278 |
| KCNS3 | E-GVEIACIAWFTGELAVR---------LA>A<APCQKKFWKNPLNIIDFVSIIPFYATLAVD | 273 |
| KCNV1 | E-ILEYVCISWFTGEFVLR---------FL>C<VRDRCRFLRKVPNIIDLLAILPFYITLLVE | 293 |
| KCNV2 | E-HVEMLCMGFFTLEYLLR---------LA>S<TPDLRRFARSALNLVDLVAILPLYLQLLLE | 353 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G186R | c.556G>C | Inherited Arrhythmia | LQTS | rs199473398 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | |||
| p.G186S | c.556G>A | Inherited Arrhythmia | LQTS | rs199473398 | 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 | |||
| Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
| p.G186D | c.557G>A | Inherited Arrhythmia | JLNS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | JLNS | KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. Am J Med Genet A. 2016 170(6):1510-9. doi: 10.1002/ajmg.a.37636. 27041150 | ||
| p.Gly186Val | c.557G>T | Unknown | SIFT: Polyphen: | ||
| p.Gly186Asp | c.557G>A | Unknown | SIFT: Polyphen: | ||