No paralogue variants have been mapped to residue 252 for KCNQ1.
| KCNQ1 | FATSAIRGIRFLQILRMLHVDRQGGTWRLL>G<SVVFIHRQELITTLYIGFLGLIFSSYFVYL | 282 |
| KCNQ2 | FATSALRSLRFLQILRMIRMDRRGGTWKLL>G<SVVYAHSKELVTAWYIGFLCLILASFLVYL | 252 |
| KCNQ3 | LA-TSLRSLRFLQILRMLRMDRRGGTWKLL>G<SAICAHSKELITAWYIGFLTLILSSFLVYL | 281 |
| KCNQ4 | FATSALRSMRFLQILRMVRMDRRGGTWKLL>G<SVVYAHSKELITAWYIGFLVLIFASFLVYL | 258 |
| KCNQ5 | FATSALRSLRFLQILRMVRMDRRGGTWKLL>G<SVVYAHSKELITAWYIGFLVLIFSSFLVYL | 286 |
| KCNA1 | TSLAILRVIRLVRVFRIFKLSRHSKGLQIL>G<QTLKASMRELGLLIFFLFIGVILFSSAVYF | 346 |
| KCNA10 | MSLAILRIIRLVRVFRIFKLSRHSKGLQIL>G<QTLKASMRELGLLIFFLFIGVILFSSAVYF | 395 |
| KCNA2 | MSLAILRVIRLVRVFRIFKLSRHSKGLQIL>G<QTLKASMRELGLLIFFLFIGVILFSSAVYF | 348 |
| KCNA3 | MSLAILRVIRLVRVFRIFKLSRHSKGLQIL>G<QTLKASMRELGLLIFFLFIGVILFSSAVYF | 418 |
| KCNA4 | MSFAILRIIRLVRVFRIFKLSRHSKGLQIL>G<HTLRASMRELGLLIFFLFIGVILFSSAVYF | 498 |
| KCNA5 | MSLAILRVIRLVRVFRIFKLSRHSKGLQIL>G<KTLQASMRELGLLIFFLFIGVILFSSAVYF | 454 |
| KCNA6 | MSLAILRVIRLVRVFRIFKLSRHSKGLQIL>G<KTLQASMRELGLLIFFLFIGVILFSSAVYF | 396 |
| KCNA7 | MSLAILRVIRLVRVFRIFKLSRHSKGLQIL>G<QTLRASMRELGLLIFFLFIGVVLFSSAVYF | 332 |
| KCNB1 | NVRRVVQIFRIMRILRILKLARHSTGLQSL>G<FTLRRSYNELGLLILFLAMGIMIFSSLVFF | 351 |
| KCNB2 | NVRRVVQIFRIMRILRILKLARHSTGLQSL>G<FTLRRSYNELGLLILFLAMGIMIFSSLVFF | 355 |
| KCNC1 | DVLGFLRVVRFVRILRIFKLTRHFVGLRVL>G<HTLRASTNEFLLLIIFLALGVLIFATMIYY | 365 |
| KCNC2 | DVLGFLRVVRFVRILRIFKLTRHFVGLRVL>G<HTLRASTNEFLLLIIFLALGVLIFATMIYY | 402 |
| KCNC3 | DVLGFLRVVRFVRILRIFKLTRHFVGLRVL>G<HTLRASTNEFLLLIIFLALGVLIFATMIYY | 468 |
| KCNC4 | DVLGFLRVVRFVRILRIFKLTRHFVGLRVL>G<HTLRASTNEFLLLIIFLALGVLIFATMIYY | 401 |
| KCND1 | DVSGAFVTLRVFRVFRIFKFSRHSQGLRIL>G<YTLKSCASELGFLLFSLTMAIIIFATVMFY | 346 |
| KCND2 | DVSGAFVTLRVFRVFRIFKFSRHSQGLRIL>G<YTLKSCASELGFLLFSLTMAIIIFATVMFY | 344 |
| KCND3 | DVSGAFVTLRVFRVFRIFKFSRHSQGLRIL>G<YTLKSCASELGFLLFSLTMAIIIFATVMFY | 341 |
| KCNF1 | NVQQAVQALRIMRIARIFKLARHSSGLQTL>T<YALKRSFKELGLLLMYLAVGIFVFSALGYT | 344 |
| KCNG1 | KVGLVLRVLRALRILYVMRLARHSLGLQTL>G<LTARRCTREFGLLLLFLCVAIALFAPLLYV | 397 |
| KCNG2 | RAGLVLRLLRALRVLYVMRLARHSLGLRSL>G<LTMRRCAREFGLLLLFLCVAMALFAPLVHL | 342 |
| KCNG3 | RAGVTLRVLRMMRIFWVIKLARHFIGLQTL>G<LTLKRCYREMVMLLVFICVAMAIFSALSQL | 343 |
| KCNG4 | KVGLVLRVLRALRILYVMRLARHSLGLQTL>G<LTVRRCTREFGLLLLFLAVAITLFSPLVYV | 391 |
| KCNS1 | HLGKVVQVFRLMRIFRVLKLARHSTGLRSL>G<ATLKHSYREVGILLLYLAVGVSVFSGVAYT | 396 |
| KCNS2 | NLGRVAQVLRLMRIFRILKLARHSTGLRSL>G<ATLKYSYKEVGLLLLYLSVGISIFSVVAYT | 349 |
| KCNS3 | NMGKVVQILRLMRIFRILKLARHSVGLRSL>G<ATLRHSYHEVGLLLLFLSVGISIFSVLIYS | 344 |
| KCNV1 | NVGRIVQVLRLLRALRMLKLGRHSTGLRSL>G<MTITQCYEEVGLLLLFLSVGISIFSTVEYF | 366 |
| KCNV2 | KVGQVLRVMRLMRIFRILKLARHSTGLRAF>G<FTLRQCYQQVGCLLLFIAMGIFTFSAAVYS | 431 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G252D | c.755G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm. 2013 10(11):1653-60. doi: 10.1016/j.hrthm.2013.08.022. 23973953 | ||