| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNA1 | F249I | Episodic ataxia / myokymia | High | 9 | 7842011, 8845167, 9526001 |
| KCNV2 | F330S | Cone dystrophy with supernormal rod ERG | High | 9 | 21882291 |
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 | LVVFFGTEYVVRLWSAGCRSKYVGLWGRLR>F<ARKPISIIDLIVVVASMVVLCVG------- | 216 |
| KCNQ2 | TIVVFGVEYFVRIWAAGCCCRYRGWRGRLK>F<ARKPFCVIDIMVLIASIAVLAAG------- | 186 |
| KCNQ3 | AIFIFGAEFALRIWAAGCCCRYKGWRGRLK>F<ARKPLCMLDIFVLIASVPVVAVG------- | 216 |
| KCNQ4 | MIVVFGLEYIVRVWSAGCCCRYRGWQGRFR>F<ARKPFCVIDFIVFVASVAVIAAG------- | 192 |
| KCNQ5 | MIVVFGLEFIIRIWSAGCCCRYRGWQGRLR>F<ARKPFCVIDTIVLIASIAVVSAK------- | 220 |
| KCNA1 | CIIWFSFELVVR---------FFACPSKTD>F<FKNIMNFIDIVAIIPYFITLGTEIAEQEG- | 278 |
| KCNA10 | CIVWFTFELVLR---------FVVCPSKTD>F<FRNIMNIIDIISIIPYFATLITELVQETEP | 329 |
| KCNA2 | CIIWFSFEFLVR---------FFACPSKAG>F<FTNIMNIIDIVAIIPYFITLGTELAEKPE- | 279 |
| KCNA3 | CIIWFSFELLVR---------FFACPSKAT>F<SRNIMNLIDIVAIIPYFITLGTELAERQ-- | 351 |
| KCNA4 | CIVWFSFEFVVR---------CFACPSQAL>F<FKNIMNIIDIVSILPYFITLGTDLAQQQGG | 429 |
| KCNA5 | CVIWFTFELLVR---------FFACPSKAG>F<SRNIMNIIDVVAIFPYFITLGTELAEQQ-- | 380 |
| KCNA6 | CIVWFTFELLVR---------FSACPSKPA>F<FRNIMNIIDLVAIFPYFITLGTELVQQQEQ | 321 |
| KCNA7 | CICWFSFELLVR---------LLVCPSKAI>F<FKNVMNLIDFVAILPYFVALGTELARQR-- | 265 |
| KCNB1 | CIAWFTMEYLLR---------FLSSPKKWK>F<FKGPLNAIDLLAILPYYVTIFLTES---N- | 283 |
| KCNB2 | CIAWFTMEYLLR---------FLSSPNKWK>F<FKGPLNVIDLLAILPYYVTIFLTES---N- | 287 |
| KCNC1 | CVVWFTFEFLMR---------VIFCPNKVE>F<IKNSLNIIDFVAILPFYLEVGLSG------ | 297 |
| KCNC2 | CVVWFTFEFLVR---------IVFSPNKLE>F<IKNLLNIIDFVAILPFYLEVGLSG------ | 334 |
| KCNC3 | CVVWFTFEFLMR---------ITFCPDKVE>F<LKSSLNIIDCVAILPFYLEVGLSG------ | 400 |
| KCNC4 | CVLWFTLEFLVR---------IVCCPDTLD>F<VKNLLNIIDFVAILPFYLEVGLSG------ | 333 |
| KCND1 | CVLIFTGEYLLR---------LFAAPSRCR>F<LRSVMSLIDVVAILPYYIGLLVP------- | 282 |
| KCND2 | CVMIFTVEYLLR---------LAAAPSRYR>F<VRSVMSIIDVVAILPYYIGLVMT------- | 280 |
| KCND3 | CVMIFTVEYLLR---------LFAAPSRYR>F<IRSVMSIIDVVAIMPYYIGLVMT------- | 277 |
| KCNF1 | CIGWFTLEYLLR---------LFSSPNKLH>F<ALSFMNIVDVLAILPFYVSLTLTHL----- | 275 |
| KCNG1 | CVGWFSLEFLLR---------LIQAPSKFA>F<LRSPLTLIDLVAILPYYITLLVDGAAAGRR | 326 |
| KCNG2 | CVAWFSFEFLLR---------SLQAESKCA>F<LRAPLNIIDILALLPFYVSLLLGL-----A | 271 |
| KCNG3 | CIGWFTAECIVR---------FIVSKNKCE>F<VKRPLNIIDLLAITPYYISVLMTV------ | 273 |
| KCNG4 | CVAWFSLEFCLR---------FVQAQDKCQ>F<FQGPLNIIDILAISPYYVSLAVSEEPPEDG | 320 |
| KCNS1 | CIAWFSFEVSSR---------LLLAPSTRN>F<FCHPLNLIDIVSVLPFYLTLLAGVALG-D- | 328 |
| KCNS2 | GIAWFTFELVAR---------FAVAPDFLK>F<FKNALNLIDLMSIVPFYITLVVNLV---V- | 281 |
| KCNS3 | CIAWFTGELAVR---------LAAAPCQKK>F<WKNPLNIIDFVSIIPFYATLAVDTK---E- | 276 |
| KCNV1 | CISWFTGEFVLR---------FLCVRDRCR>F<LRKVPNIIDLLAILPFYITLLVESLSG-S- | 298 |
| KCNV2 | CMGFFTLEYLLR---------LASTPDLRR>F<ARSALNLVDLVAILPLYLQLLLECFTGEGH | 360 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F193L | c.577T>C | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | LQTS | Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome. Clin Sci (Lond). 2003 104(4):377-82. 12653681 | ||
| Inherited Arrhythmia | LQTS | Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004 44(1):117-25. 15234419 | |||
| p.F193L | c.579T>A | Putative Benign | rs199473454 | SIFT: deleterious Polyphen: probably damaging | |