No paralogue variants have been mapped to residue 110 for KCNQ1.
| KCNQ1 | --------------------------VQGR>V<YNFLERPT-GWKCFVYHFAVFLIVLVCLIF | 139 |
| KCNQ2 | --------------------------LQNF>L<YNVLERPR-G-WAFIYHAYVFLLVFSCLVL | 109 |
| KCNQ3 | --------------------------IQTL>I<YDALERPR-G-WALLYHALVFLIVLGCLIL | 139 |
| KCNQ4 | --------------------------LQNW>V<YNVLERPR-G-WAFVYHVFIFLLVFSCLVL | 115 |
| KCNQ5 | --------------------------VQNY>L<YNVLERPR-G-WAFIYHAFVFLLVFGCLIL | 143 |
| KCNA1 | ---------------------P-EKEYQRQ>V<WLLFEYPESSGPARVIAIVSVMVILISIVI | 183 |
| KCNA10 | ---------------------P-TNDIHRQ>F<WLLFEYPESSSAARAVAVVSVLVVVISITI | 232 |
| KCNA2 | ---------------------P-ENEFQRQ>V<WLLFEYPESSGPARIIAIVSVMVILISIVS | 179 |
| KCNA3 | ---------------------P-RRDFQRQ>V<WLLFEYPESSGPARGIAIVSVLVILISIVI | 250 |
| KCNA4 | ---------------------P-ENEFKKQ>I<WLLFEYPESSSPARGIAIVSVLVILISIVI | 323 |
| KCNA5 | ---------------------P-RNEFQRQ>V<WLIFEYPESSGSARAIAIVSVLVILISIIT | 266 |
| KCNA6 | ---------------------P-SQPFQRQ>V<WLLFEYPESSGPARGIAIVSVLVILISIVI | 190 |
| KCNA7 | ---------------------P-RRAFARQ>L<WLLFEFPESSQAARVLAVVSVLVILVSIVV | 159 |
| KCNB1 | ---------F-------DNTC--CAEKRKK>L<WDLLEKPNSSVAAKILAIISIMFIVLSTIA | 205 |
| KCNB2 | ---------F-------DNTC--CPDKRKK>L<WDLLEKPNSSVAAKILAIVSILFIVLSTIA | 209 |
| KCNC1 | DS-----PDG-------RPGGF-WRRWQPR>I<WALFEDPYSSRYARYVAFASLFFILVSITT | 206 |
| KCNC2 | DAAGLGGPDG-------KSGR--WRRLQPR>M<WALFEDPYSSRAARFIAFASLFFILVSITT | 245 |
| KCNC3 | DAG--GGAGGPPGGAGGAGGTW-WRRWQPR>V<WALFEDPYSSRAARYVAFASLFFILISITT | 306 |
| KCNC4 | EGG--AGHGA-------GSGG--CRGWQPR>M<WALFEDPYSSRAARVVAFASLFFILVSITT | 242 |
| KCND1 | ---------------------PAGSSLRQR>L<WRAFENPHTSTAALVFYYVTGFFIAVSVIA | 202 |
| KCND2 | ---------------------PTMT-ARQR>V<WRAFENPHTSTMALVFYYVTGFFIAVSVIA | 201 |
| KCND3 | ---------------------PSLS-FRQT>M<WRAFENPHTSTLALVFYYVTGFFIAVSVIT | 199 |
| KCNF1 | ---------A-------AEGR--WRRCQKC>V<WKFLEKPESSCPARVVAVLSFLLILVSSVV | 198 |
| KCNG1 | ---------E-------GEGRL-GR-CMRR>L<RDMVERPHSGLPGKVFACLSVLFVTVTAVN | 243 |
| KCNG2 | ---------G-------PRGRL-QR-GRRR>L<RDVVDNPHSGLAGKLFACVSVSFVAVTAVG | 193 |
| KCNG3 | ---------G-------AEAAP-SRRWLER>M<RRTFEEPTSSLAAQILASVSVVFVIVSMVV | 187 |
| KCNG4 | ---------S-------HSSRW-GL-CMNR>L<REMVENPQSGLPGKVFACLSILFVATTAVS | 237 |
| KCNS1 | ---------Y-------GAAR--CGRLRRR>L<WLTMENPGYSLPSKLFSCVSISVVLASIAA | 236 |
| KCNS2 | ---------F-------DGQP--LGNFRRQ>L<WLALDNPGYSVLSRVFSILSILVVMGSIIT | 203 |
| KCNS3 | ---------F-------DTLR--FGQLRKK>I<WIRMENPAYCLSAKLIAISSLSVVLASIVA | 201 |
| KCNV1 | ---------F-------SQGP--CPTVRQK>L<WNILEKPGSSTAARIFGVISIIFVVVSIIN | 226 |
| KCNV2 | ---------F-------RDMRF-YGPQRRR>L<WNLMEKPFSSVAAKAIGVASSTFVLVSVVA | 276 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V110I | c.328G>A | Inherited Arrhythmia | LQTS | rs199472677 | SIFT: tolerated Polyphen: benign |
| Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Inherited Arrhythmia | LQTS | Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2. Can J Physiol Pharmacol. 2010 88(12):1181-90. 21164565 | |||
| Putative Benign | 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 | ||||