No paralogue variants have been mapped to residue 251 for KCNQ1.
| KCNQ1 | VFATSAIRGIRFLQILRMLHVDRQGGTWRL>L<GSVVFIHRQELITTLYIGFLGLIFSSYFVY | 281 |
| KCNQ2 | VFATSALRSLRFLQILRMIRMDRRGGTWKL>L<GSVVYAHSKELVTAWYIGFLCLILASFLVY | 251 |
| KCNQ3 | VLA-TSLRSLRFLQILRMLRMDRRGGTWKL>L<GSAICAHSKELITAWYIGFLTLILSSFLVY | 280 |
| KCNQ4 | IFATSALRSMRFLQILRMVRMDRRGGTWKL>L<GSVVYAHSKELITAWYIGFLVLIFASFLVY | 257 |
| KCNQ5 | IFATSALRSLRFLQILRMVRMDRRGGTWKL>L<GSVVYAHSKELITAWYIGFLVLIFSSFLVY | 285 |
| KCNA1 | ATSLAILRVIRLVRVFRIFKLSRHSKGLQI>L<GQTLKASMRELGLLIFFLFIGVILFSSAVY | 345 |
| KCNA10 | NMSLAILRIIRLVRVFRIFKLSRHSKGLQI>L<GQTLKASMRELGLLIFFLFIGVILFSSAVY | 394 |
| KCNA2 | AMSLAILRVIRLVRVFRIFKLSRHSKGLQI>L<GQTLKASMRELGLLIFFLFIGVILFSSAVY | 347 |
| KCNA3 | AMSLAILRVIRLVRVFRIFKLSRHSKGLQI>L<GQTLKASMRELGLLIFFLFIGVILFSSAVY | 417 |
| KCNA4 | AMSFAILRIIRLVRVFRIFKLSRHSKGLQI>L<GHTLRASMRELGLLIFFLFIGVILFSSAVY | 497 |
| KCNA5 | AMSLAILRVIRLVRVFRIFKLSRHSKGLQI>L<GKTLQASMRELGLLIFFLFIGVILFSSAVY | 453 |
| KCNA6 | AMSLAILRVIRLVRVFRIFKLSRHSKGLQI>L<GKTLQASMRELGLLIFFLFIGVILFSSAVY | 395 |
| KCNA7 | AMSLAILRVIRLVRVFRIFKLSRHSKGLQI>L<GQTLRASMRELGLLIFFLFIGVVLFSSAVY | 331 |
| KCNB1 | QNVRRVVQIFRIMRILRILKLARHSTGLQS>L<GFTLRRSYNELGLLILFLAMGIMIFSSLVF | 350 |
| KCNB2 | QNVRRVVQIFRIMRILRILKLARHSTGLQS>L<GFTLRRSYNELGLLILFLAMGIMIFSSLVF | 354 |
| KCNC1 | KDVLGFLRVVRFVRILRIFKLTRHFVGLRV>L<GHTLRASTNEFLLLIIFLALGVLIFATMIY | 364 |
| KCNC2 | KDVLGFLRVVRFVRILRIFKLTRHFVGLRV>L<GHTLRASTNEFLLLIIFLALGVLIFATMIY | 401 |
| KCNC3 | KDVLGFLRVVRFVRILRIFKLTRHFVGLRV>L<GHTLRASTNEFLLLIIFLALGVLIFATMIY | 467 |
| KCNC4 | RDVLGFLRVVRFVRILRIFKLTRHFVGLRV>L<GHTLRASTNEFLLLIIFLALGVLIFATMIY | 400 |
| KCND1 | DDVSGAFVTLRVFRVFRIFKFSRHSQGLRI>L<GYTLKSCASELGFLLFSLTMAIIIFATVMF | 345 |
| KCND2 | EDVSGAFVTLRVFRVFRIFKFSRHSQGLRI>L<GYTLKSCASELGFLLFSLTMAIIIFATVMF | 343 |
| KCND3 | EDVSGAFVTLRVFRVFRIFKFSRHSQGLRI>L<GYTLKSCASELGFLLFSLTMAIIIFATVMF | 340 |
| KCNF1 | TNVQQAVQALRIMRIARIFKLARHSSGLQT>L<TYALKRSFKELGLLLMYLAVGIFVFSALGY | 343 |
| KCNG1 | DKVGLVLRVLRALRILYVMRLARHSLGLQT>L<GLTARRCTREFGLLLLFLCVAIALFAPLLY | 396 |
| KCNG2 | ERAGLVLRLLRALRVLYVMRLARHSLGLRS>L<GLTMRRCAREFGLLLLFLCVAMALFAPLVH | 341 |
| KCNG3 | QRAGVTLRVLRMMRIFWVIKLARHFIGLQT>L<GLTLKRCYREMVMLLVFICVAMAIFSALSQ | 342 |
| KCNG4 | EKVGLVLRVLRALRILYVMRLARHSLGLQT>L<GLTVRRCTREFGLLLLFLAVAITLFSPLVY | 390 |
| KCNS1 | GHLGKVVQVFRLMRIFRVLKLARHSTGLRS>L<GATLKHSYREVGILLLYLAVGVSVFSGVAY | 395 |
| KCNS2 | ANLGRVAQVLRLMRIFRILKLARHSTGLRS>L<GATLKYSYKEVGLLLLYLSVGISIFSVVAY | 348 |
| KCNS3 | ENMGKVVQILRLMRIFRILKLARHSVGLRS>L<GATLRHSYHEVGLLLLFLSVGISIFSVLIY | 343 |
| KCNV1 | ENVGRIVQVLRLLRALRMLKLGRHSTGLRS>L<GMTITQCYEEVGLLLLFLSVGISIFSTVEY | 365 |
| KCNV2 | GKVGQVLRVMRLMRIFRILKLARHSTGLRA>F<GFTLRQCYQQVGCLLLFIAMGIFTFSAAVY | 430 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L251P | c.752T>C | Inherited Arrhythmia | LQTS | rs199472716 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | A novel mutation in KVLQT1, L122P, found in a family with autosomal dominant long QT syndrome. Am Heart J. 2000 140(1):146-9. 10874277 | ||
| Inherited Arrhythmia | LQTS | Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome. Can J Physiol Pharmacol. 2003 81(2):129-34. 12710526 | |||
| p.L251Q | c.752T>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | ||