No paralogue variants have been mapped to residue 58 for KCNQ1.
| KCNQ1 | ----------------A--GGALYAPIAPG>A<PGP--------APPASPAAPAAPPVASDL- | 79 |
| KCNQ2 | ----------------------------A->P<K---------------RGSILS-------- | 55 |
| KCNQ3 | ------------------------------>-<-DEG-----QR---R----TPQ-------- | 83 |
| KCNQ4 | --------------------------RRLG>L<LGSP-----L------PPGAPLP------- | 59 |
| KCNQ5 | --------------------------ATLG>G<GGGG-----LRESRRGKQGARMS------- | 88 |
| KCNA1 | ------KR-M---RYFDPLRNEYFFDRNRP>S<FDAILYYYQSGGRLRRPVNVPLDMFSEEIK | 118 |
| KCNA10 | ------KR-M---QFFDSMRNEYFFDRNRP>S<FDGILYYYQSGGKIRRPANVPIDIFADEIS | 167 |
| KCNA2 | ------KR-M---RYFDPLRNEYFFDRNRP>S<FDAILYYYQSGGRLRRPVNVPLDIFSEEIR | 114 |
| KCNA3 | ------RR-M---RYFDPLRNEYFFDRNRP>S<FDAILYYYQSGGRIRRPVNVPIDIFSEEIR | 185 |
| KCNA4 | ------KR-T---QYFDPLRNEYFFDRNRP>S<FDAILYYYQSGGRLKRPVNVPFDIFTEEVK | 257 |
| KCNA5 | ------KR-L---RYFDPLRNEYFFDRNRP>S<FDGILYYYQSGGRLRRPVNVSLDVFADEIR | 201 |
| KCNA6 | ------RR-V---RFFDPLRNEYFFDRNRP>S<FDAILYYYQSGGRLRRPVNVPLDIFLEEIR | 122 |
| KCNA7 | ------RR-G---RFYDDARREYFFDRHRP>S<FDAVLYYYQSGGRLRRPAHVPLDVFLEEVA | 94 |
| KCNB1 | ------SL-LEVCDDYSLDDNEYFFDRHPG>A<FTSILNFYRT-GRLHMMEEMCALSFSQELD | 120 |
| KCNB2 | ------SL-LEVCDDYNLNENEYFFDRHPG>A<FTSILNFYRT-GKLHMMEEMCALSFGQELD | 124 |
| KCNC1 | ---------S--HFDYDPRADEFFFDRHPG>V<FAHILNYYRT-GKLHCPADVCGPLYEEELA | 92 |
| KCNC2 | ------RGGR--ASDHPGGGREFFFDRHPG>V<FAYVLNYYRT-GKLHCPADVCGPLFEEELA | 139 |
| KCNC3 | ---------A--RFDYDPGADEFFFDRHPG>V<FAYVLNYYRT-GKLHCPADVCGPLFEEELG | 172 |
| KCNC4 | --------GS--SGSSGGGGCEFFFDRHPG>V<FAYVLNYYRT-GKLHCPADVCGPLFEEELT | 131 |
| KCND1 | ------KE-F----FYDADSGEYFFDRDPD>M<FRHVLNFYRT-GRLHCPRQECIQAFDEELA | 119 |
| KCND2 | ------RD-F----FYHPETQQYFFDRDPD>I<FRHILNFYRT-GKLHYPRHECISAYDEELA | 120 |
| KCND3 | ------KE-F----FFNEDTKEYFFDRDPE>V<FRCVLNFYRT-GKLHYPRYECISAYDDELA | 119 |
| KCNF1 | ------TI-FSLCDDYDPGKREFYFDRDPD>A<FKCVIEVYYF-GEVHMKKGICPICFKNEMD | 114 |
| KCNG1 | ------DI-LNVCDDYDVTCNEFFFDRNPG>A<FGTILTFLRA-GKLRLLREMCALSFQEELL | 152 |
| KCNG2 | ------DL-LRVCDDYDVSRDEFFFDRSPC>A<FRAIVALLRA-GKLRLLRGPCALAFRDELA | 106 |
| KCNG3 | ------DV-LEVCDDYDRERNEYFFDRHSE>A<FGFILLYVRGHGKLRFAPRMCELSFYNEMI | 99 |
| KCNG4 | ------EI-VQLCDDYDEDSQEFFFDRSPS>A<FGVIVSFLAA-GKLVLLQEMCALSFQEELA | 148 |
| KCNS1 | ------QA-RRLCDDYDEAAREFYFDRHPG>F<FLSLLHFYRT-GHLHVLDELCVFAFGQEAD | 139 |
| KCNS2 | ------AI-LELCDDYDDVQREFYFDRNPE>L<FPYVLHFYHT-GKLHVMAELCVFSFSQEIE | 106 |
| KCNS3 | ------AI-LELCDDYSVADKEYYFDRNPS>L<FRYVLNFYYT-GKLHVMEELCVFSFCQEIE | 104 |
| KCNV1 | ALAAVPSP-LELCDDANPVDNEYFFDRSSQ>A<FRYVLHYYRT-GRLHVMEQLCALSFLQEIQ | 138 |
| KCNV2 | ------RQ-LSLCDDYEEQTDEYFFDRDPA>V<FQLVYNFYLS-GVLLVLDGLCPRRFLEELG | 186 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A58P | c.172G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531 | ||
| p.A58V | c.173C>T | Putative Benign | SIFT: deleterious Polyphen: benign | ||