No paralogue variants have been mapped to residue 57 for KCNQ1.
| KCNQ1 | -----------------A--GGALYAPIAP>G<APGP--------APPASPAAPAAPPVASDL | 79 |
| KCNQ2 | -----------------------------A>-<PK---------------RGSILS------- | 55 |
| KCNQ3 | ------------------------------>-<--DEG-----QR---R----TPQ------- | 83 |
| KCNQ4 | ---------------------------RRL>G<LLGSP-----L------PPGAPLP------ | 59 |
| KCNQ5 | ---------------------------ATL>G<GGGGG-----LRESRRGKQGARMS------ | 88 |
| KCNA1 | -------KR-M---RYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLRRPVNVPLDMFSEEI | 117 |
| KCNA10 | -------KR-M---QFFDSMRNEYFFDRNR>P<SFDGILYYYQSGGKIRRPANVPIDIFADEI | 166 |
| KCNA2 | -------KR-M---RYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLRRPVNVPLDIFSEEI | 113 |
| KCNA3 | -------RR-M---RYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRIRRPVNVPIDIFSEEI | 184 |
| KCNA4 | -------KR-T---QYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLKRPVNVPFDIFTEEV | 256 |
| KCNA5 | -------KR-L---RYFDPLRNEYFFDRNR>P<SFDGILYYYQSGGRLRRPVNVSLDVFADEI | 200 |
| KCNA6 | -------RR-V---RFFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLRRPVNVPLDIFLEEI | 121 |
| KCNA7 | -------RR-G---RFYDDARREYFFDRHR>P<SFDAVLYYYQSGGRLRRPAHVPLDVFLEEV | 93 |
| KCNB1 | -------SL-LEVCDDYSLDDNEYFFDRHP>G<AFTSILNFYRT-GRLHMMEEMCALSFSQEL | 119 |
| KCNB2 | -------SL-LEVCDDYNLNENEYFFDRHP>G<AFTSILNFYRT-GKLHMMEEMCALSFGQEL | 123 |
| KCNC1 | ----------S--HFDYDPRADEFFFDRHP>G<VFAHILNYYRT-GKLHCPADVCGPLYEEEL | 91 |
| KCNC2 | -------RGGR--ASDHPGGGREFFFDRHP>G<VFAYVLNYYRT-GKLHCPADVCGPLFEEEL | 138 |
| KCNC3 | ----------A--RFDYDPGADEFFFDRHP>G<VFAYVLNYYRT-GKLHCPADVCGPLFEEEL | 171 |
| KCNC4 | ---------GS--SGSSGGGGCEFFFDRHP>G<VFAYVLNYYRT-GKLHCPADVCGPLFEEEL | 130 |
| KCND1 | -------KE-F----FYDADSGEYFFDRDP>D<MFRHVLNFYRT-GRLHCPRQECIQAFDEEL | 118 |
| KCND2 | -------RD-F----FYHPETQQYFFDRDP>D<IFRHILNFYRT-GKLHYPRHECISAYDEEL | 119 |
| KCND3 | -------KE-F----FFNEDTKEYFFDRDP>E<VFRCVLNFYRT-GKLHYPRYECISAYDDEL | 118 |
| KCNF1 | -------TI-FSLCDDYDPGKREFYFDRDP>D<AFKCVIEVYYF-GEVHMKKGICPICFKNEM | 113 |
| KCNG1 | -------DI-LNVCDDYDVTCNEFFFDRNP>G<AFGTILTFLRA-GKLRLLREMCALSFQEEL | 151 |
| KCNG2 | -------DL-LRVCDDYDVSRDEFFFDRSP>C<AFRAIVALLRA-GKLRLLRGPCALAFRDEL | 105 |
| KCNG3 | -------DV-LEVCDDYDRERNEYFFDRHS>E<AFGFILLYVRGHGKLRFAPRMCELSFYNEM | 98 |
| KCNG4 | -------EI-VQLCDDYDEDSQEFFFDRSP>S<AFGVIVSFLAA-GKLVLLQEMCALSFQEEL | 147 |
| KCNS1 | -------QA-RRLCDDYDEAAREFYFDRHP>G<FFLSLLHFYRT-GHLHVLDELCVFAFGQEA | 138 |
| KCNS2 | -------AI-LELCDDYDDVQREFYFDRNP>E<LFPYVLHFYHT-GKLHVMAELCVFSFSQEI | 105 |
| KCNS3 | -------AI-LELCDDYSVADKEYYFDRNP>S<LFRYVLNFYYT-GKLHVMEELCVFSFCQEI | 103 |
| KCNV1 | GALAAVPSP-LELCDDANPVDNEYFFDRSS>Q<AFRYVLHYYRT-GRLHVMEQLCALSFLQEI | 137 |
| KCNV2 | -------RQ-LSLCDDYEEQTDEYFFDRDP>A<VFQLVYNFYLS-GVLLVLDGLCPRRFLEEL | 185 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G57V | c.170G>T | Inherited Arrhythmia | LQTS | rs199473445 | SIFT: deleterious Polyphen: benign |
| Reports | 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 | Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome. Heart Rhythm. 2012 9(6):892-8. doi: 10.1016/j.hrthm.2012.01.020. 22293141 | |||