No paralogue variants have been mapped to residue 195 for KCNQ1.
| KCNQ1 | VFFGTEYVVRLWSAGCRSKYVGLWGRLRFA>R<KPISIIDLIVVVASMVVLCVG--------- | 216 |
| KCNQ2 | VVFGVEYFVRIWAAGCCCRYRGWRGRLKFA>R<KPFCVIDIMVLIASIAVLAAG--------- | 186 |
| KCNQ3 | FIFGAEFALRIWAAGCCCRYKGWRGRLKFA>R<KPLCMLDIFVLIASVPVVAVG--------- | 216 |
| KCNQ4 | VVFGLEYIVRVWSAGCCCRYRGWQGRFRFA>R<KPFCVIDFIVFVASVAVIAAG--------- | 192 |
| KCNQ5 | VVFGLEFIIRIWSAGCCCRYRGWQGRLRFA>R<KPFCVIDTIVLIASIAVVSAK--------- | 220 |
| KCNA1 | IWFSFELVVR---------FFACPSKTDFF>K<NIMNFIDIVAIIPYFITLGTEIAEQEG--- | 278 |
| KCNA10 | VWFTFELVLR---------FVVCPSKTDFF>R<NIMNIIDIISIIPYFATLITELVQETEP-- | 329 |
| KCNA2 | IWFSFEFLVR---------FFACPSKAGFF>T<NIMNIIDIVAIIPYFITLGTELAEKPE--- | 279 |
| KCNA3 | IWFSFELLVR---------FFACPSKATFS>R<NIMNLIDIVAIIPYFITLGTELAERQ---- | 351 |
| KCNA4 | VWFSFEFVVR---------CFACPSQALFF>K<NIMNIIDIVSILPYFITLGTDLAQQQGG-- | 429 |
| KCNA5 | IWFTFELLVR---------FFACPSKAGFS>R<NIMNIIDVVAIFPYFITLGTELAEQQ---P | 381 |
| KCNA6 | VWFTFELLVR---------FSACPSKPAFF>R<NIMNIIDLVAIFPYFITLGTELVQQQEQQP | 323 |
| KCNA7 | CWFSFELLVR---------LLVCPSKAIFF>K<NVMNLIDFVAILPYFVALGTELARQR---- | 265 |
| KCNB1 | AWFTMEYLLR---------FLSSPKKWKFF>K<GPLNAIDLLAILPYYVTIFLTES---N--- | 283 |
| KCNB2 | AWFTMEYLLR---------FLSSPNKWKFF>K<GPLNVIDLLAILPYYVTIFLTES---N--- | 287 |
| KCNC1 | VWFTFEFLMR---------VIFCPNKVEFI>K<NSLNIIDFVAILPFYLEVGLSG-------- | 297 |
| KCNC2 | VWFTFEFLVR---------IVFSPNKLEFI>K<NLLNIIDFVAILPFYLEVGLSG-------- | 334 |
| KCNC3 | VWFTFEFLMR---------ITFCPDKVEFL>K<SSLNIIDCVAILPFYLEVGLSG-------- | 400 |
| KCNC4 | LWFTLEFLVR---------IVCCPDTLDFV>K<NLLNIIDFVAILPFYLEVGLSG-------- | 333 |
| KCND1 | LIFTGEYLLR---------LFAAPSRCRFL>R<SVMSLIDVVAILPYYIGLLVP--------- | 282 |
| KCND2 | MIFTVEYLLR---------LAAAPSRYRFV>R<SVMSIIDVVAILPYYIGLVMT--------- | 280 |
| KCND3 | MIFTVEYLLR---------LFAAPSRYRFI>R<SVMSIIDVVAIMPYYIGLVMT--------- | 277 |
| KCNF1 | GWFTLEYLLR---------LFSSPNKLHFA>L<SFMNIVDVLAILPFYVSLTLTHL------- | 275 |
| KCNG1 | GWFSLEFLLR---------LIQAPSKFAFL>R<SPLTLIDLVAILPYYITLLVDGAAAGRR-- | 326 |
| KCNG2 | AWFSFEFLLR---------SLQAESKCAFL>R<APLNIIDILALLPFYVSLLLGL-----A-- | 271 |
| KCNG3 | GWFTAECIVR---------FIVSKNKCEFV>K<RPLNIIDLLAITPYYISVLMTV-------- | 273 |
| KCNG4 | AWFSLEFCLR---------FVQAQDKCQFF>Q<GPLNIIDILAISPYYVSLAVSEEPPEDG-- | 320 |
| KCNS1 | AWFSFEVSSR---------LLLAPSTRNFF>C<HPLNLIDIVSVLPFYLTLLAGVALG-D--- | 328 |
| KCNS2 | AWFTFELVAR---------FAVAPDFLKFF>K<NALNLIDLMSIVPFYITLVVNLV---V--- | 281 |
| KCNS3 | AWFTGELAVR---------LAAAPCQKKFW>K<NPLNIIDFVSIIPFYATLAVDTK---E--- | 276 |
| KCNV1 | SWFTGEFVLR---------FLCVRDRCRFL>R<KVPNIIDLLAILPFYITLLVESLSG-S--- | 298 |
| KCNV2 | GFFTLEYLLR---------LASTPDLRRFA>R<SALNLVDLVAILPLYLQLLLECFTGEGH-- | 360 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R195Q | c.584G>A | Putative Benign | rs138362632 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| p.R195W | c.583C>T | Inherited Arrhythmia | LQTS,AF | rs150172393 | 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 | AF | Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart Rhythm. 2014 11(2):246-51. doi: 10.1016/j.hrthm.2013.10.034. 24144883 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Inherited Arrhythmia | LQTS | IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation. J Cardiovasc Electrophysiol. 2015 26(7):715-23. doi: 10.1111/jce.12666. 25786344 | |||