| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNA1 | I314T | Episodic ataxia / myokymia | Medium | 9 | 26395884 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.
| KCNQ1 | QVFATSAIRGIRFLQILRMLHVDRQGGTWR>L<LGSVVFIHRQELITTLYIGFLGLIFSSYFV | 280 |
| KCNQ2 | NVFATSALRSLRFLQILRMIRMDRRGGTWK>L<LGSVVYAHSKELVTAWYIGFLCLILASFLV | 250 |
| KCNQ3 | NVLA-TSLRSLRFLQILRMLRMDRRGGTWK>L<LGSAICAHSKELITAWYIGFLTLILSSFLV | 279 |
| KCNQ4 | NIFATSALRSMRFLQILRMVRMDRRGGTWK>L<LGSVVYAHSKELITAWYIGFLVLIFASFLV | 256 |
| KCNQ5 | NIFATSALRSLRFLQILRMVRMDRRGGTWK>L<LGSVVYAHSKELITAWYIGFLVLIFSSFLV | 284 |
| KCNA1 | QATSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV | 344 |
| KCNA10 | QNMSLAILRIIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV | 393 |
| KCNA2 | QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV | 346 |
| KCNA3 | QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV | 416 |
| KCNA4 | QAMSFAILRIIRLVRVFRIFKLSRHSKGLQ>I<LGHTLRASMRELGLLIFFLFIGVILFSSAV | 496 |
| KCNA5 | QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGKTLQASMRELGLLIFFLFIGVILFSSAV | 452 |
| KCNA6 | QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGKTLQASMRELGLLIFFLFIGVILFSSAV | 394 |
| KCNA7 | QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLRASMRELGLLIFFLFIGVVLFSSAV | 330 |
| KCNB1 | FQNVRRVVQIFRIMRILRILKLARHSTGLQ>S<LGFTLRRSYNELGLLILFLAMGIMIFSSLV | 349 |
| KCNB2 | FQNVRRVVQIFRIMRILRILKLARHSTGLQ>S<LGFTLRRSYNELGLLILFLAMGIMIFSSLV | 353 |
| KCNC1 | AKDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI | 363 |
| KCNC2 | AKDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI | 400 |
| KCNC3 | AKDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI | 466 |
| KCNC4 | ARDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI | 399 |
| KCND1 | NDDVSGAFVTLRVFRVFRIFKFSRHSQGLR>I<LGYTLKSCASELGFLLFSLTMAIIIFATVM | 344 |
| KCND2 | NEDVSGAFVTLRVFRVFRIFKFSRHSQGLR>I<LGYTLKSCASELGFLLFSLTMAIIIFATVM | 342 |
| KCND3 | NEDVSGAFVTLRVFRVFRIFKFSRHSQGLR>I<LGYTLKSCASELGFLLFSLTMAIIIFATVM | 339 |
| KCNF1 | LTNVQQAVQALRIMRIARIFKLARHSSGLQ>T<LTYALKRSFKELGLLLMYLAVGIFVFSALG | 342 |
| KCNG1 | LDKVGLVLRVLRALRILYVMRLARHSLGLQ>T<LGLTARRCTREFGLLLLFLCVAIALFAPLL | 395 |
| KCNG2 | LERAGLVLRLLRALRVLYVMRLARHSLGLR>S<LGLTMRRCAREFGLLLLFLCVAMALFAPLV | 340 |
| KCNG3 | LQRAGVTLRVLRMMRIFWVIKLARHFIGLQ>T<LGLTLKRCYREMVMLLVFICVAMAIFSALS | 341 |
| KCNG4 | LEKVGLVLRVLRALRILYVMRLARHSLGLQ>T<LGLTVRRCTREFGLLLLFLAVAITLFSPLV | 389 |
| KCNS1 | FGHLGKVVQVFRLMRIFRVLKLARHSTGLR>S<LGATLKHSYREVGILLLYLAVGVSVFSGVA | 394 |
| KCNS2 | LANLGRVAQVLRLMRIFRILKLARHSTGLR>S<LGATLKYSYKEVGLLLLYLSVGISIFSVVA | 347 |
| KCNS3 | IENMGKVVQILRLMRIFRILKLARHSVGLR>S<LGATLRHSYHEVGLLLLFLSVGISIFSVLI | 342 |
| KCNV1 | LENVGRIVQVLRLLRALRMLKLGRHSTGLR>S<LGMTITQCYEEVGLLLLFLSVGISIFSTVE | 364 |
| KCNV2 | VGKVGQVLRVMRLMRIFRILKLARHSTGLR>A<FGFTLRQCYQQVGCLLLFIAMGIFTFSAAV | 429 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L250H | c.749T>A | Inherited Arrhythmia | LQTS | rs199472715 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 1998 103(3):290-4. 9799083 | ||
| Inherited Arrhythmia | LQTS | Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet. 1998 102(4):435-9. 9600240 | |||
| p.L250P | c.749T>C | Inherited Arrhythmia | LQTS | rs199472715 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||