No paralogue variants have been mapped to residue 253 for KCNQ1.
| KCNQ1 | ATSAIRGIRFLQILRMLHVDRQGGTWRLLG>S<VVFIHRQELITTLYIGFLGLIFSSYFVYLA | 283 |
| KCNQ2 | ATSALRSLRFLQILRMIRMDRRGGTWKLLG>S<VVYAHSKELVTAWYIGFLCLILASFLVYLA | 253 |
| KCNQ3 | A-TSLRSLRFLQILRMLRMDRRGGTWKLLG>S<AICAHSKELITAWYIGFLTLILSSFLVYLV | 282 |
| KCNQ4 | ATSALRSMRFLQILRMVRMDRRGGTWKLLG>S<VVYAHSKELITAWYIGFLVLIFASFLVYLA | 259 |
| KCNQ5 | ATSALRSLRFLQILRMVRMDRRGGTWKLLG>S<VVYAHSKELITAWYIGFLVLIFSSFLVYLV | 287 |
| KCNA1 | SLAILRVIRLVRVFRIFKLSRHSKGLQILG>Q<TLKASMRELGLLIFFLFIGVILFSSAVYFA | 347 |
| KCNA10 | SLAILRIIRLVRVFRIFKLSRHSKGLQILG>Q<TLKASMRELGLLIFFLFIGVILFSSAVYFA | 396 |
| KCNA2 | SLAILRVIRLVRVFRIFKLSRHSKGLQILG>Q<TLKASMRELGLLIFFLFIGVILFSSAVYFA | 349 |
| KCNA3 | SLAILRVIRLVRVFRIFKLSRHSKGLQILG>Q<TLKASMRELGLLIFFLFIGVILFSSAVYFA | 419 |
| KCNA4 | SFAILRIIRLVRVFRIFKLSRHSKGLQILG>H<TLRASMRELGLLIFFLFIGVILFSSAVYFA | 499 |
| KCNA5 | SLAILRVIRLVRVFRIFKLSRHSKGLQILG>K<TLQASMRELGLLIFFLFIGVILFSSAVYFA | 455 |
| KCNA6 | SLAILRVIRLVRVFRIFKLSRHSKGLQILG>K<TLQASMRELGLLIFFLFIGVILFSSAVYFA | 397 |
| KCNA7 | SLAILRVIRLVRVFRIFKLSRHSKGLQILG>Q<TLRASMRELGLLIFFLFIGVVLFSSAVYFA | 333 |
| KCNB1 | VRRVVQIFRIMRILRILKLARHSTGLQSLG>F<TLRRSYNELGLLILFLAMGIMIFSSLVFFA | 352 |
| KCNB2 | VRRVVQIFRIMRILRILKLARHSTGLQSLG>F<TLRRSYNELGLLILFLAMGIMIFSSLVFFA | 356 |
| KCNC1 | VLGFLRVVRFVRILRIFKLTRHFVGLRVLG>H<TLRASTNEFLLLIIFLALGVLIFATMIYYA | 366 |
| KCNC2 | VLGFLRVVRFVRILRIFKLTRHFVGLRVLG>H<TLRASTNEFLLLIIFLALGVLIFATMIYYA | 403 |
| KCNC3 | VLGFLRVVRFVRILRIFKLTRHFVGLRVLG>H<TLRASTNEFLLLIIFLALGVLIFATMIYYA | 469 |
| KCNC4 | VLGFLRVVRFVRILRIFKLTRHFVGLRVLG>H<TLRASTNEFLLLIIFLALGVLIFATMIYYA | 402 |
| KCND1 | VSGAFVTLRVFRVFRIFKFSRHSQGLRILG>Y<TLKSCASELGFLLFSLTMAIIIFATVMFYA | 347 |
| KCND2 | VSGAFVTLRVFRVFRIFKFSRHSQGLRILG>Y<TLKSCASELGFLLFSLTMAIIIFATVMFYA | 345 |
| KCND3 | VSGAFVTLRVFRVFRIFKFSRHSQGLRILG>Y<TLKSCASELGFLLFSLTMAIIIFATVMFYA | 342 |
| KCNF1 | VQQAVQALRIMRIARIFKLARHSSGLQTLT>Y<ALKRSFKELGLLLMYLAVGIFVFSALGYTM | 345 |
| KCNG1 | VGLVLRVLRALRILYVMRLARHSLGLQTLG>L<TARRCTREFGLLLLFLCVAIALFAPLLYVI | 398 |
| KCNG2 | AGLVLRLLRALRVLYVMRLARHSLGLRSLG>L<TMRRCAREFGLLLLFLCVAMALFAPLVHLA | 343 |
| KCNG3 | AGVTLRVLRMMRIFWVIKLARHFIGLQTLG>L<TLKRCYREMVMLLVFICVAMAIFSALSQLL | 344 |
| KCNG4 | VGLVLRVLRALRILYVMRLARHSLGLQTLG>L<TVRRCTREFGLLLLFLAVAITLFSPLVYVA | 392 |
| KCNS1 | LGKVVQVFRLMRIFRVLKLARHSTGLRSLG>A<TLKHSYREVGILLLYLAVGVSVFSGVAYTA | 397 |
| KCNS2 | LGRVAQVLRLMRIFRILKLARHSTGLRSLG>A<TLKYSYKEVGLLLLYLSVGISIFSVVAYTI | 350 |
| KCNS3 | MGKVVQILRLMRIFRILKLARHSVGLRSLG>A<TLRHSYHEVGLLLLFLSVGISIFSVLIYSV | 345 |
| KCNV1 | VGRIVQVLRLLRALRMLKLGRHSTGLRSLG>M<TITQCYEEVGLLLLFLSVGISIFSTVEYFA | 367 |
| KCNV2 | VGQVLRVMRLMRIFRILKLARHSTGLRAFG>F<TLRQCYQQVGCLLLFIAMGIFTFSAAVYSV | 432 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S253A | c.757T>G | Putative Benign | SIFT: Polyphen: | ||
| p.S253C | c.758C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. Am J Med Genet A. 2016 170(6):1510-9. doi: 10.1002/ajmg.a.37636. 27041150 | ||
| p.Ser253Pro | c.757T>C | Unknown | SIFT: Polyphen: | ||
| p.Ser253Phe | c.758C>T | Unknown | SIFT: Polyphen: | ||
| p.Ser253Cys | c.758C>G | Unknown | SIFT: Polyphen: | ||