No paralogue variants have been mapped to residue 183 for KCNQ1.
| KCNQ1 | T-LF-WMEIVLVVFFGTEYVVRLWSAGCRS>K<YVGLWGRLRFARKPISIIDLIVVVASMVVL | 213 |
| KCNQ2 | A-LY-ILEIVTIVVFGVEYFVRIWAAGCCC>R<YRGWRGRLKFARKPFCVIDIMVLIASIAVL | 183 |
| KCNQ3 | W-LL-LLETFAIFIFGAEFALRIWAAGCCC>R<YKGWRGRLKFARKPLCMLDIFVLIASVPVV | 213 |
| KCNQ4 | C-LL-ILEFVMIVVFGLEYIVRVWSAGCCC>R<YRGWQGRFRFARKPFCVIDFIVFVASVAVI | 189 |
| KCNQ5 | C-LL-ILEFVMIVVFGLEFIIRIWSAGCCC>R<YRGWQGRLRFARKPFCVIDTIVLIASIAVV | 217 |
| KCNA1 | P-FF-IVETLCIIWFSFELVVR-------->-<FFACPSKTDFFKNIMNFIDIVAIIPYFITL | 269 |
| KCNA10 | P-FF-MVESTCIVWFTFELVLR-------->-<FVVCPSKTDFFRNIMNIIDIISIIPYFATL | 319 |
| KCNA2 | P-FF-IVETLCIIWFSFEFLVR-------->-<FFACPSKAGFFTNIMNIIDIVAIIPYFITL | 270 |
| KCNA3 | P-FF-VVETLCIIWFSFELLVR-------->-<FFACPSKATFSRNIMNLIDIVAIIPYFITL | 343 |
| KCNA4 | P-FF-IVETVCIVWFSFEFVVR-------->-<CFACPSQALFFKNIMNIIDIVSILPYFITL | 419 |
| KCNA5 | P-FF-IVETTCVIWFTFELLVR-------->-<FFACPSKAGFSRNIMNIIDVVAIFPYFITL | 372 |
| KCNA6 | P-FF-LVETLCIVWFTFELLVR-------->-<FSACPSKPAFFRNIMNIIDLVAIFPYFITL | 311 |
| KCNA7 | P-FF-VVETLCICWFSFELLVR-------->-<LLVCPSKAIFFKNVMNLIDFVAILPYFVAL | 257 |
| KCNB1 | PQLA-HVEAVCIAWFTMEYLLR-------->-<FLSSPKKWKFFKGPLNAIDLLAILPYYVTI | 277 |
| KCNB2 | RQLA-HVEAVCIAWFTMEYLLR-------->-<FLSSPNKWKFFKGPLNVIDLLAILPYYVTI | 281 |
| KCNC1 | A-FLTYIEGVCVVWFTFEFLMR-------->-<VIFCPNKVEFIKNSLNIIDFVAILPFYLEV | 293 |
| KCNC2 | P-ALTYVEGVCVVWFTFEFLVR-------->-<IVFSPNKLEFIKNLLNIIDFVAILPFYLEV | 330 |
| KCNC3 | P-FLTYVEGVCVVWFTFEFLMR-------->-<ITFCPDKVEFLKSSLNIIDCVAILPFYLEV | 396 |
| KCNC4 | P-ILTYIEGVCVLWFTLEFLVR-------->-<IVCCPDTLDFVKNLLNIIDFVAILPFYLEV | 329 |
| KCND1 | A-FF-CMDTACVLIFTGEYLLR-------->-<LFAAPSRCRFLRSVMSLIDVVAILPYYIGL | 279 |
| KCND2 | A-FF-CLDTACVMIFTVEYLLR-------->-<LAAAPSRYRFVRSVMSIIDVVAILPYYIGL | 277 |
| KCND3 | A-FF-CLDTACVMIFTVEYLLR-------->-<LFAAPSRYRFIRSVMSIIDVVAIMPYYIGL | 274 |
| KCNF1 | PTLE-NVETACIGWFTLEYLLR-------->-<LFSSPNKLHFALSFMNIVDVLAILPFYVSL | 270 |
| KCNG1 | N-VF-IVESVCVGWFSLEFLLR-------->-<LIQAPSKFAFLRSPLTLIDLVAILPYYITL | 316 |
| KCNG2 | S-LF-VLETVCVAWFSFEFLLR-------->-<SLQAESKCAFLRAPLNIIDILALLPFYVSL | 266 |
| KCNG3 | P-SG-IIEAICIGWFTAECIVR-------->-<FIVSKNKCEFVKRPLNIIDLLAITPYYISV | 269 |
| KCNG4 | Y-IF-IVETICVAWFSLEFCLR-------->-<FVQAQDKCQFFQGPLNIIDILAISPYYVSL | 310 |
| KCNS1 | PVLR-RLEYFCIAWFSFEVSSR-------->-<LLLAPSTRNFFCHPLNLIDIVSVLPFYLTL | 320 |
| KCNS2 | PRFE-IVEHFGIAWFTFELVAR-------->-<FAVAPDFLKFFKNALNLIDLMSIVPFYITL | 275 |
| KCNS3 | PVLE-GVEIACIAWFTGELAVR-------->-<LAAAPCQKKFWKNPLNIIDFVSIIPFYATL | 270 |
| KCNV1 | QLLE-ILEYVCISWFTGEFVLR-------->-<FLCVRDRCRFLRKVPNIIDLLAILPFYITL | 290 |
| KCNV2 | PILE-HVEMLCMGFFTLEYLLR-------->-<LASTPDLRRFARSALNLVDLVAILPLYLQL | 350 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K183R | c.548A>G | Inherited Arrhythmia | LQTS | rs199473396 | SIFT: tolerated 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 | ||
| p.K183M | c.548A>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Mutation analysis of cases of sudden unexplained death, 15 years after death: Prompt genetic evaluation after resuscitation can save future lives. Resuscitation. 2012 83(10):1229-34. 22659597 | ||