No paralogue variants have been mapped to residue 111 for KCNQ1.
| KCNQ1 | -------------------------VQGRV>Y<NFLERPT-GWKCFVYHFAVFLIVLVCLIFS | 140 |
| KCNQ2 | -------------------------LQNFL>Y<NVLERPR-G-WAFIYHAYVFLLVFSCLVLS | 110 |
| KCNQ3 | -------------------------IQTLI>Y<DALERPR-G-WALLYHALVFLIVLGCLILA | 140 |
| KCNQ4 | -------------------------LQNWV>Y<NVLERPR-G-WAFVYHVFIFLLVFSCLVLS | 116 |
| KCNQ5 | -------------------------VQNYL>Y<NVLERPR-G-WAFIYHAFVFLLVFGCLILS | 144 |
| KCNA1 | --------------------P-EKEYQRQV>W<LLFEYPESSGPARVIAIVSVMVILISIVIF | 184 |
| KCNA10 | --------------------P-TNDIHRQF>W<LLFEYPESSSAARAVAVVSVLVVVISITIF | 233 |
| KCNA2 | --------------------P-ENEFQRQV>W<LLFEYPESSGPARIIAIVSVMVILISIVSF | 180 |
| KCNA3 | --------------------P-RRDFQRQV>W<LLFEYPESSGPARGIAIVSVLVILISIVIF | 251 |
| KCNA4 | --------------------P-ENEFKKQI>W<LLFEYPESSSPARGIAIVSVLVILISIVIF | 324 |
| KCNA5 | --------------------P-RNEFQRQV>W<LIFEYPESSGSARAIAIVSVLVILISIITF | 267 |
| KCNA6 | --------------------P-SQPFQRQV>W<LLFEYPESSGPARGIAIVSVLVILISIVIF | 191 |
| KCNA7 | --------------------P-RRAFARQL>W<LLFEFPESSQAARVLAVVSVLVILVSIVVF | 160 |
| KCNB1 | --------F-------DNTC--CAEKRKKL>W<DLLEKPNSSVAAKILAIISIMFIVLSTIAL | 206 |
| KCNB2 | --------F-------DNTC--CPDKRKKL>W<DLLEKPNSSVAAKILAIVSILFIVLSTIAL | 210 |
| KCNC1 | S-----PDG-------RPGGF-WRRWQPRI>W<ALFEDPYSSRYARYVAFASLFFILVSITTF | 207 |
| KCNC2 | AAGLGGPDG-------KSGR--WRRLQPRM>W<ALFEDPYSSRAARFIAFASLFFILVSITTF | 246 |
| KCNC3 | AG--GGAGGPPGGAGGAGGTW-WRRWQPRV>W<ALFEDPYSSRAARYVAFASLFFILISITTF | 307 |
| KCNC4 | GG--AGHGA-------GSGG--CRGWQPRM>W<ALFEDPYSSRAARVVAFASLFFILVSITTF | 243 |
| KCND1 | --------------------PAGSSLRQRL>W<RAFENPHTSTAALVFYYVTGFFIAVSVIAN | 203 |
| KCND2 | --------------------PTMT-ARQRV>W<RAFENPHTSTMALVFYYVTGFFIAVSVIAN | 202 |
| KCND3 | --------------------PSLS-FRQTM>W<RAFENPHTSTLALVFYYVTGFFIAVSVITN | 200 |
| KCNF1 | --------A-------AEGR--WRRCQKCV>W<KFLEKPESSCPARVVAVLSFLLILVSSVVM | 199 |
| KCNG1 | --------E-------GEGRL-GR-CMRRL>R<DMVERPHSGLPGKVFACLSVLFVTVTAVNL | 244 |
| KCNG2 | --------G-------PRGRL-QR-GRRRL>R<DVVDNPHSGLAGKLFACVSVSFVAVTAVGL | 194 |
| KCNG3 | --------G-------AEAAP-SRRWLERM>R<RTFEEPTSSLAAQILASVSVVFVIVSMVVL | 188 |
| KCNG4 | --------S-------HSSRW-GL-CMNRL>R<EMVENPQSGLPGKVFACLSILFVATTAVSL | 238 |
| KCNS1 | --------Y-------GAAR--CGRLRRRL>W<LTMENPGYSLPSKLFSCVSISVVLASIAAM | 237 |
| KCNS2 | --------F-------DGQP--LGNFRRQL>W<LALDNPGYSVLSRVFSILSILVVMGSIITM | 204 |
| KCNS3 | --------F-------DTLR--FGQLRKKI>W<IRMENPAYCLSAKLIAISSLSVVLASIVAM | 202 |
| KCNV1 | --------F-------SQGP--CPTVRQKL>W<NILEKPGSSTAARIFGVISIIFVVVSIINM | 227 |
| KCNV2 | --------F-------RDMRF-YGPQRRRL>W<NLMEKPFSSVAAKAIGVASSTFVLVSVVAL | 277 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y111C | c.332A>G | Inherited Arrhythmia | LQTS,JLNS | rs199472678 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome. Circ Res. 2006 99(10):1076-83. 17053194 | |||
| Inherited Arrhythmia | LQTS | LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1. J Biol Chem. 2009 284(8):5250-6. 19114714 | |||
| 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 | Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population. Circ Cardiovasc Genet. 2009 2(6):558-64. 20031635 | |||
| Inherited Arrhythmia | LQTS | Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation. Heart Rhythm. 2011 8(4):541-7. 21129503 | |||
| Inherited Arrhythmia | JLNS | Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. Europace. 2012 22539601 | |||
| Inherited Arrhythmia | LQTS | Electrophysiological phenotype in the LQTS mutations Y111C and R518X in the KCNQ1 gene. J Appl Physiol (1985). 2013 115(10):1423-32. doi: 10.1152/japplphysiol.00665.2 24052033 | |||
| Inherited Arrhythmia | LQTS | Third Trimester Fetal Heart Rate Predicts Phenotype and Mutation Burden in the Type 1 Long QT Syndrome. Circ Arrhythm Electrophysiol. 2015 8(4):806-14. doi: 10.1161/CIRCEP.114.002552. 26019114 | |||