| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNA1 | L305F | Episodic ataxia | Medium | 9 | 16511644 |
| KCNQ4 | M217K | Hearing loss | Medium | 9 | 26969326 |
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 | ------SKGQVFATSAIRGIRFLQILRMLH>V<DRQGGTWRLLGSVVFIHRQELITTLYIGFL | 271 |
| KCNQ2 | ------SQGNVFATSALRSLRFLQILRMIR>M<DRRGGTWKLLGSVVYAHSKELVTAWYIGFL | 241 |
| KCNQ3 | ------NQGNVLA-TSLRSLRFLQILRMLR>M<DRRGGTWKLLGSAICAHSKELITAWYIGFL | 270 |
| KCNQ4 | ------TQGNIFATSALRSMRFLQILRMVR>M<DRRGGTWKLLGSVVYAHSKELITAWYIGFL | 247 |
| KCNQ5 | ------TQGNIFATSALRSLRFLQILRMVR>M<DRRGGTWKLLGSVVYAHSKELITAWYIGFL | 275 |
| KCNA1 | ---N-QKGEQATSLAILRVIRLVRVFRIFK>L<SRHSKGLQILGQTLKASMRELGLLIFFLFI | 335 |
| KCNA10 | ------SAQQNMSLAILRIIRLVRVFRIFK>L<SRHSKGLQILGQTLKASMRELGLLIFFLFI | 384 |
| KCNA2 | ---DAQQGQQAMSLAILRVIRLVRVFRIFK>L<SRHSKGLQILGQTLKASMRELGLLIFFLFI | 337 |
| KCNA3 | -----GNGQQAMSLAILRVIRLVRVFRIFK>L<SRHSKGLQILGQTLKASMRELGLLIFFLFI | 407 |
| KCNA4 | ---GNGQQQQAMSFAILRIIRLVRVFRIFK>L<SRHSKGLQILGHTLRASMRELGLLIFFLFI | 487 |
| KCNA5 | GGGGGQNGQQAMSLAILRVIRLVRVFRIFK>L<SRHSKGLQILGKTLQASMRELGLLIFFLFI | 443 |
| KCNA6 | SGGGGQNGQQAMSLAILRVIRLVRVFRIFK>L<SRHSKGLQILGKTLQASMRELGLLIFFLFI | 385 |
| KCNA7 | -----GVGQQAMSLAILRVIRLVRVFRIFK>L<SRHSKGLQILGQTLRASMRELGLLIFFLFI | 321 |
| KCNB1 | ----KSVLQFQNVRRVVQIFRIMRILRILK>L<ARHSTGLQSLGFTLRRSYNELGLLILFLAM | 340 |
| KCNB2 | ----KSVLQFQNVRRVVQIFRIMRILRILK>L<ARHSTGLQSLGFTLRRSYNELGLLILFLAM | 344 |
| KCNC1 | ----LSSKAAKDVLGFLRVVRFVRILRIFK>L<TRHFVGLRVLGHTLRASTNEFLLLIIFLAL | 354 |
| KCNC2 | ----LSSKAAKDVLGFLRVVRFVRILRIFK>L<TRHFVGLRVLGHTLRASTNEFLLLIIFLAL | 391 |
| KCNC3 | ----LSSKAAKDVLGFLRVVRFVRILRIFK>L<TRHFVGLRVLGHTLRASTNEFLLLIIFLAL | 457 |
| KCNC4 | ----LSSKAARDVLGFLRVVRFVRILRIFK>L<TRHFVGLRVLGHTLRASTNEFLLLIIFLAL | 390 |
| KCND1 | --------KNDDVSGAFVTLRVFRVFRIFK>F<SRHSQGLRILGYTLKSCASELGFLLFSLTM | 335 |
| KCND2 | --------DNEDVSGAFVTLRVFRVFRIFK>F<SRHSQGLRILGYTLKSCASELGFLLFSLTM | 333 |
| KCND3 | --------NNEDVSGAFVTLRVFRVFRIFK>F<SRHSQGLRILGYTLKSCASELGFLLFSLTM | 330 |
| KCNF1 | ---GARMMELTNVQQAVQALRIMRIARIFK>L<ARHSSGLQTLTYALKRSFKELGLLLMYLAV | 333 |
| KCNG1 | -KPGAGNSYLDKVGLVLRVLRALRILYVMR>L<ARHSLGLQTLGLTARRCTREFGLLLLFLCV | 386 |
| KCNG2 | -AGPGGTKLLERAGLVLRLLRALRVLYVMR>L<ARHSLGLRSLGLTMRRCAREFGLLLLFLCV | 331 |
| KCNG3 | --FTGENSQLQRAGVTLRVLRMMRIFWVIK>L<ARHFIGLQTLGLTLKRCYREMVMLLVFICV | 332 |
| KCNG4 | -ERPSGSSYLEKVGLVLRVLRALRILYVMR>L<ARHSLGLQTLGLTVRRCTREFGLLLLFLAV | 380 |
| KCNS1 | ----QGGKEFGHLGKVVQVFRLMRIFRVLK>L<ARHSTGLRSLGATLKHSYREVGILLLYLAV | 385 |
| KCNS2 | ----ESTPTLANLGRVAQVLRLMRIFRILK>L<ARHSTGLRSLGATLKYSYKEVGLLLLYLSV | 338 |
| KCNS3 | ----EESEDIENMGKVVQILRLMRIFRILK>L<ARHSVGLRSLGATLRHSYHEVGLLLLFLSV | 333 |
| KCNV1 | ----QTTQELENVGRIVQVLRLLRALRMLK>L<GRHSTGLRSLGMTITQCYEEVGLLLLFLSV | 355 |
| KCNV2 | -QRGQTVGSVGKVGQVLRVMRLMRIFRILK>L<ARHSTGLRAFGFTLRQCYQQVGCLLLFIAM | 420 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V241G | c.722T>G | Inherited Arrhythmia | LQTS | rs199472711 | 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 | ||
| p.V241I | c.721G>A | Inherited Arrhythmia | rs199956744 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||
| p.V241F | c.721G>T | Inherited Arrhythmia | AF | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | AF | A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation. Pflugers Arch. 2013 23989646 | ||
| Inherited Arrhythmia | AF | Computational prediction of proarrhythmogenic effect of the V241F KCNQ1 mutation in human atrium. Prog Biophys Mol Biol. 2014 116(1):70-5. doi: 10.1016/j.pbiomolbio.2014.09.001 25230101 | |||