No paralogue variants have been mapped to residue 117 for KCNQ1.
| KCNQ1 | -------------------VQGRVYNFLER>P<T-GWKCFVYHFAVFLIVLVCLIFSVLSTIE | 146 |
| KCNQ2 | -------------------LQNFLYNVLER>P<R-G-WAFIYHAYVFLLVFSCLVLSVFSTIK | 116 |
| KCNQ3 | -------------------IQTLIYDALER>P<R-G-WALLYHALVFLIVLGCLILAVLTTFK | 146 |
| KCNQ4 | -------------------LQNWVYNVLER>P<R-G-WAFVYHVFIFLLVFSCLVLSVLSTIQ | 122 |
| KCNQ5 | -------------------VQNYLYNVLER>P<R-G-WAFIYHAFVFLLVFGCLILSVFSTIP | 150 |
| KCNA1 | --------------P-EKEYQRQVWLLFEY>P<ESSGPARVIAIVSVMVILISIVIFCLETLP | 190 |
| KCNA10 | --------------P-TNDIHRQFWLLFEY>P<ESSSAARAVAVVSVLVVVISITIFCLETLP | 239 |
| KCNA2 | --------------P-ENEFQRQVWLLFEY>P<ESSGPARIIAIVSVMVILISIVSFCLETLP | 186 |
| KCNA3 | --------------P-RRDFQRQVWLLFEY>P<ESSGPARGIAIVSVLVILISIVIFCLETLP | 257 |
| KCNA4 | --------------P-ENEFKKQIWLLFEY>P<ESSSPARGIAIVSVLVILISIVIFCLETLP | 330 |
| KCNA5 | --------------P-RNEFQRQVWLIFEY>P<ESSGSARAIAIVSVLVILISIITFCLETLP | 273 |
| KCNA6 | --------------P-SQPFQRQVWLLFEY>P<ESSGPARGIAIVSVLVILISIVIFCLETLP | 197 |
| KCNA7 | --------------P-RRAFARQLWLLFEF>P<ESSQAARVLAVVSVLVILVSIVVFCLETLP | 166 |
| KCNB1 | --F-------DNTC--CAEKRKKLWDLLEK>P<NSSVAAKILAIISIMFIVLSTIALSLNTLP | 212 |
| KCNB2 | --F-------DNTC--CPDKRKKLWDLLEK>P<NSSVAAKILAIVSILFIVLSTIALSLNTLP | 216 |
| KCNC1 | PDG-------RPGGF-WRRWQPRIWALFED>P<YSSRYARYVAFASLFFILVSITTFCLETHE | 213 |
| KCNC2 | PDG-------KSGR--WRRLQPRMWALFED>P<YSSRAARFIAFASLFFILVSITTFCLETHE | 252 |
| KCNC3 | AGGPPGGAGGAGGTW-WRRWQPRVWALFED>P<YSSRAARYVAFASLFFILISITTFCLETHE | 313 |
| KCNC4 | HGA-------GSGG--CRGWQPRMWALFED>P<YSSRAARVVAFASLFFILVSITTFCLETHE | 249 |
| KCND1 | --------------PAGSSLRQRLWRAFEN>P<HTSTAALVFYYVTGFFIAVSVIANVVETIP | 209 |
| KCND2 | --------------PTMT-ARQRVWRAFEN>P<HTSTMALVFYYVTGFFIAVSVIANVVETVP | 208 |
| KCND3 | --------------PSLS-FRQTMWRAFEN>P<HTSTLALVFYYVTGFFIAVSVITNVVETVP | 206 |
| KCNF1 | --A-------AEGR--WRRCQKCVWKFLEK>P<ESSCPARVVAVLSFLLILVSSVVMCMGTIP | 205 |
| KCNG1 | --E-------GEGRL-GR-CMRRLRDMVER>P<HSGLPGKVFACLSVLFVTVTAVNLSVSTLP | 250 |
| KCNG2 | --G-------PRGRL-QR-GRRRLRDVVDN>P<HSGLAGKLFACVSVSFVAVTAVGLCLSTMP | 200 |
| KCNG3 | --G-------AEAAP-SRRWLERMRRTFEE>P<TSSLAAQILASVSVVFVIVSMVVLCASTLP | 194 |
| KCNG4 | --S-------HSSRW-GL-CMNRLREMVEN>P<QSGLPGKVFACLSILFVATTAVSLCVSTMP | 244 |
| KCNS1 | --Y-------GAAR--CGRLRRRLWLTMEN>P<GYSLPSKLFSCVSISVVLASIAAMCIHSLP | 243 |
| KCNS2 | --F-------DGQP--LGNFRRQLWLALDN>P<GYSVLSRVFSILSILVVMGSIITMCLNSLP | 210 |
| KCNS3 | --F-------DTLR--FGQLRKKIWIRMEN>P<AYCLSAKLIAISSLSVVLASIVAMCVHSMS | 208 |
| KCNV1 | --F-------SQGP--CPTVRQKLWNILEK>P<GSSTAARIFGVISIIFVVVSIINMALMSAE | 233 |
| KCNV2 | --F-------RDMRF-YGPQRRRLWNLMEK>P<FSSVAAKAIGVASSTFVLVSVVALALNTVE | 283 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P117L | c.350C>T | Inherited Arrhythmia | LQTS | rs120074191 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Molecular diagnosis in a child with sudden infant death syndrome. Lancet. 2001 358(9290):1342-3. 11684219 | ||
| 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 | |||
| p.Pro117Ser | c.349C>T | Unknown | SIFT: Polyphen: | ||