No paralogue variants have been mapped to residue 73 for KCNQ1.
| KCNQ1 | YAPIAPGAPGP--------APPASPAAPAA>P<PVASDL---GPRPPVSL------DPRVSIY | 94 |
| KCNQ2 | -----A-PK---------------RGSILS>-<---------KPRAGG--AGAGK-PPKRNAF | 73 |
| KCNQ3 | ---------DEG-----QR---R----TPQ>-<---------GIGL-LAKTPLSRPVKRNNAK | 103 |
| KCNQ4 | ---RRLGLLGSP-----L------PPGAPL>P<---------GPGSGSGSACGQR-SSAAHKR | 79 |
| KCNQ5 | ---ATLGGGGGG-----LRESRRGKQGARM>S<---------LLGKPL-SYTSSQ-SCRRNVK | 107 |
| KCNA1 | FFDRNRPSFDAILYYYQSGGRLRRPVNVPL>D<MFSEEIKFYELGEEAME----K--FREDEG | 135 |
| KCNA10 | FFDRNRPSFDGILYYYQSGGKIRRPANVPI>D<IFADEISFYELGSEAMD----Q--FREDEG | 184 |
| KCNA2 | FFDRNRPSFDAILYYYQSGGRLRRPVNVPL>D<IFSEEIRFYELGEEAME----M--FREDEG | 131 |
| KCNA3 | FFDRNRPSFDAILYYYQSGGRIRRPVNVPI>D<IFSEEIRFYQLGEEAME----K--FREDEG | 202 |
| KCNA4 | FFDRNRPSFDAILYYYQSGGRLKRPVNVPF>D<IFTEEVKFYQLGEEALL----K--FREDEG | 274 |
| KCNA5 | FFDRNRPSFDGILYYYQSGGRLRRPVNVSL>D<VFADEIRFYQLGDEAME----R--FREDEG | 218 |
| KCNA6 | FFDRNRPSFDAILYYYQSGGRLRRPVNVPL>D<IFLEEIRFYQLGDEALA----A--FREDEG | 139 |
| KCNA7 | FFDRHRPSFDAVLYYYQSGGRLRRPAHVPL>D<VFLEEVAFYGLGAAALA----R--LREDEG | 111 |
| KCNB1 | FFDRHPGAFTSILNFYRT-GRLHMMEEMCA>L<SFSQELDYWGIDEIYLE----S--CCQARY | 137 |
| KCNB2 | FFDRHPGAFTSILNFYRT-GKLHMMEEMCA>L<SFGQELDYWGIDEIYLE----S--CCQARY | 141 |
| KCNC1 | FFDRHPGVFAHILNYYRT-GKLHCPADVCG>P<LYEEELAFWGIDETDVE----P--CCWMTY | 109 |
| KCNC2 | FFDRHPGVFAYVLNYYRT-GKLHCPADVCG>P<LFEEELAFWGIDETDVE----P--CCWMTY | 156 |
| KCNC3 | FFDRHPGVFAYVLNYYRT-GKLHCPADVCG>P<LFEEELGFWGIDETDVE----A--CCWMTY | 189 |
| KCNC4 | FFDRHPGVFAYVLNYYRT-GKLHCPADVCG>P<LFEEELTFWGIDETDVE----P--CCWMTY | 148 |
| KCND1 | FFDRDPDMFRHVLNFYRT-GRLHCPRQECI>Q<AFDEELAFYGLVPELVG----D--CCLEEY | 136 |
| KCND2 | FFDRDPDIFRHILNFYRT-GKLHYPRHECI>S<AYDEELAFFGLIPEIIG----D--CCYEEY | 137 |
| KCND3 | FFDRDPEVFRCVLNFYRT-GKLHYPRYECI>S<AYDDELAFYGILPEIIG----D--CCYEEY | 136 |
| KCNF1 | YFDRDPDAFKCVIEVYYF-GEVHMKKGICP>I<CFKNEMDFWKVDLKFLD----D--CCKSHL | 131 |
| KCNG1 | FFDRNPGAFGTILTFLRA-GKLRLLREMCA>L<SFQEELLYWGIAEDHLD----G--CCKRRY | 169 |
| KCNG2 | FFDRSPCAFRAIVALLRA-GKLRLLRGPCA>L<AFRDELAYWGIDEARLE----R--CCLRRL | 123 |
| KCNG3 | FFDRHSEAFGFILLYVRGHGKLRFAPRMCE>L<SFYNEMIYWGLEGAHLE----Y--CCQRRL | 116 |
| KCNG4 | FFDRSPSAFGVIVSFLAA-GKLVLLQEMCA>L<SFQEELAYWGIEEAHLE----R--CCLRKL | 165 |
| KCNS1 | YFDRHPGFFLSLLHFYRT-GHLHVLDELCV>F<AFGQEADYWGLGENALA----A--CCRARY | 156 |
| KCNS2 | YFDRNPELFPYVLHFYHT-GKLHVMAELCV>F<SFSQEIEYWGINEFFID----S--CCSYSY | 123 |
| KCNS3 | YFDRNPSLFRYVLNFYYT-GKLHVMEELCV>F<SFCQEIEYWGINELFID----S--CCSNRY | 121 |
| KCNV1 | FFDRSSQAFRYVLHYYRT-GRLHVMEQLCA>L<SFLQEIQYWGIDELSID----S--CCRDRY | 155 |
| KCNV2 | FFDRDPAVFQLVYNFYLS-GVLLVLDGLCP>R<RFLEELGYWGVRLKYTP----R--CCRICF | 203 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P73T | c.217C>A | Inherited Arrhythmia | LQTS | rs199472676 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||