No paralogue variants have been mapped to residue 275 for KCNQ1.
| KCNQ1 | GGTWRLLGSVVFIHRQELITTLYIGFLGLI>F<SSYFVYLAEKDAVN-----ESGRVEFGSYA | 300 |
| KCNQ2 | GGTWKLLGSVVYAHSKELVTAWYIGFLCLI>L<ASFLVYLAEKGE----------NDHFDTYA | 265 |
| KCNQ3 | GGTWKLLGSAICAHSKELITAWYIGFLTLI>L<SSFLVYLVEKDVPEVDAQGEEMKEEFETYA | 304 |
| KCNQ4 | GGTWKLLGSVVYAHSKELITAWYIGFLVLI>F<ASFLVYLAEKDA----------NSDFSSYA | 271 |
| KCNQ5 | GGTWKLLGSVVYAHSKELITAWYIGFLVLI>F<SSFLVYLVEKDA----------NKEFSTYA | 299 |
| KCNA1 | SKGLQILGQTLKASMRELGLLIFFLFIGVI>L<FSSAVYFAEAEE---------AESHFSSIP | 360 |
| KCNA10 | SKGLQILGQTLKASMRELGLLIFFLFIGVI>L<FSSAVYFAEVDE---------PESHFSSIP | 409 |
| KCNA2 | SKGLQILGQTLKASMRELGLLIFFLFIGVI>L<FSSAVYFAEADE---------RESQFPSIP | 362 |
| KCNA3 | SKGLQILGQTLKASMRELGLLIFFLFIGVI>L<FSSAVYFAEADD---------PTSGFSSIP | 432 |
| KCNA4 | SKGLQILGHTLRASMRELGLLIFFLFIGVI>L<FSSAVYFAEADE---------PTTHFQSIP | 512 |
| KCNA5 | SKGLQILGKTLQASMRELGLLIFFLFIGVI>L<FSSAVYFAEADN---------QGTHFSSIP | 468 |
| KCNA6 | SKGLQILGKTLQASMRELGLLIFFLFIGVI>L<FSSAVYFAEADD---------DDSLFPSIP | 410 |
| KCNA7 | SKGLQILGQTLRASMRELGLLIFFLFIGVV>L<FSSAVYFAEVDR---------VDSHFTSIP | 346 |
| KCNB1 | STGLQSLGFTLRRSYNELGLLILFLAMGIM>I<FSSLVFFAEKDE---------DDTKFKSIP | 365 |
| KCNB2 | STGLQSLGFTLRRSYNELGLLILFLAMGIM>I<FSSLVFFAEKDE---------DATKFTSIP | 369 |
| KCNC1 | FVGLRVLGHTLRASTNEFLLLIIFLALGVL>I<FATMIYYAERIGAQPNDPSASEHTHFKNIP | 388 |
| KCNC2 | FVGLRVLGHTLRASTNEFLLLIIFLALGVL>I<FATMIYYAERVGAQPNDPSASEHTQFKNIP | 425 |
| KCNC3 | FVGLRVLGHTLRASTNEFLLLIIFLALGVL>I<FATMIYYAERIGADPDDILGSNHTYFKNIP | 491 |
| KCNC4 | FVGLRVLGHTLRASTNEFLLLIIFLALGVL>I<FATMIYYAERIGARPSDPRGNDHTDFKNIP | 424 |
| KCND1 | SQGLRILGYTLKSCASELGFLLFSLTMAII>I<FATVMFYAEKGT---------NKTNFTSIP | 360 |
| KCND2 | SQGLRILGYTLKSCASELGFLLFSLTMAII>I<FATVMFYAEKGS---------SASKFTSIP | 358 |
| KCND3 | SQGLRILGYTLKSCASELGFLLFSLTMAII>I<FATVMFYAEKGS---------SASKFTSIP | 355 |
| KCNF1 | SSGLQTLTYALKRSFKELGLLLMYLAVGIF>V<FSALGYTMEQSH---------PETLFKSIP | 358 |
| KCNG1 | SLGLQTLGLTARRCTREFGLLLLFLCVAIA>L<FAPLLYVIENEM-----A---DSPEFTSIP | 412 |
| KCNG2 | SLGLRSLGLTMRRCAREFGLLLLFLCVAMA>L<FAPLVHLAEREL-----G---ARRDFSSVP | 357 |
| KCNG3 | FIGLQTLGLTLKRCYREMVMLLVFICVAMA>I<FSALSQLLEHGL-----DLETSNKDFTSIP | 361 |
| KCNG4 | SLGLQTLGLTVRRCTREFGLLLLFLAVAIT>L<FSPLVYVAEKES-----G---RVLEFTSIP | 406 |
| KCNS1 | STGLRSLGATLKHSYREVGILLLYLAVGVS>V<FSGVAYTAEKEE----------DVGFNTIP | 409 |
| KCNS2 | STGLRSLGATLKYSYKEVGLLLLYLSVGIS>I<FSVVAYTIEKEE----------NEGLATIP | 362 |
| KCNS3 | SVGLRSLGATLRHSYHEVGLLLLFLSVGIS>I<FSVLIYSVEKDD---------HTSSLTSIP | 358 |
| KCNV1 | STGLRSLGMTITQCYEEVGLLLLFLSVGIS>I<FSTVEYFAEQSI---------PDTTFTSVP | 380 |
| KCNV2 | STGLRAFGFTLRQCYQQVGCLLLFIAMGIF>T<FSAAVYSVEHDV---------PSTNFTTIP | 445 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F275S | c.824T>C | Inherited Arrhythmia | LQTS | rs199472729 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002 20(6):475-6. 12442276 | ||
| Inherited Arrhythmia | LQTS | Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function. Biochem Biophys Res Commun. 2009 380(1):127-31. 19167356 | |||