| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | H228Q | Epilepsy, benign neonatal | High | 9 | 14534157 |
| KCNQ4 | H234L | Hearing loss, non-syndromic | High | 9 | 27081546 |
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 | RGIRFLQILRMLHVDRQGGTWRLLGSVVFI>H<RQELITTLYIGFLGLIFSSYFVYLAEKDAV | 288 |
| KCNQ2 | RSLRFLQILRMIRMDRRGGTWKLLGSVVYA>H<SKELVTAWYIGFLCLILASFLVYLAEKGE- | 257 |
| KCNQ3 | RSLRFLQILRMLRMDRRGGTWKLLGSAICA>H<SKELITAWYIGFLTLILSSFLVYLVEKDVP | 287 |
| KCNQ4 | RSMRFLQILRMVRMDRRGGTWKLLGSVVYA>H<SKELITAWYIGFLVLIFASFLVYLAEKDA- | 263 |
| KCNQ5 | RSLRFLQILRMVRMDRRGGTWKLLGSVVYA>H<SKELITAWYIGFLVLIFSSFLVYLVEKDA- | 291 |
| KCNA1 | RVIRLVRVFRIFKLSRHSKGLQILGQTLKA>S<MRELGLLIFFLFIGVILFSSAVYFAEAEE- | 351 |
| KCNA10 | RIIRLVRVFRIFKLSRHSKGLQILGQTLKA>S<MRELGLLIFFLFIGVILFSSAVYFAEVDE- | 400 |
| KCNA2 | RVIRLVRVFRIFKLSRHSKGLQILGQTLKA>S<MRELGLLIFFLFIGVILFSSAVYFAEADE- | 353 |
| KCNA3 | RVIRLVRVFRIFKLSRHSKGLQILGQTLKA>S<MRELGLLIFFLFIGVILFSSAVYFAEADD- | 423 |
| KCNA4 | RIIRLVRVFRIFKLSRHSKGLQILGHTLRA>S<MRELGLLIFFLFIGVILFSSAVYFAEADE- | 503 |
| KCNA5 | RVIRLVRVFRIFKLSRHSKGLQILGKTLQA>S<MRELGLLIFFLFIGVILFSSAVYFAEADN- | 459 |
| KCNA6 | RVIRLVRVFRIFKLSRHSKGLQILGKTLQA>S<MRELGLLIFFLFIGVILFSSAVYFAEADD- | 401 |
| KCNA7 | RVIRLVRVFRIFKLSRHSKGLQILGQTLRA>S<MRELGLLIFFLFIGVVLFSSAVYFAEVDR- | 337 |
| KCNB1 | QIFRIMRILRILKLARHSTGLQSLGFTLRR>S<YNELGLLILFLAMGIMIFSSLVFFAEKDE- | 356 |
| KCNB2 | QIFRIMRILRILKLARHSTGLQSLGFTLRR>S<YNELGLLILFLAMGIMIFSSLVFFAEKDE- | 360 |
| KCNC1 | RVVRFVRILRIFKLTRHFVGLRVLGHTLRA>S<TNEFLLLIIFLALGVLIFATMIYYAERIGA | 371 |
| KCNC2 | RVVRFVRILRIFKLTRHFVGLRVLGHTLRA>S<TNEFLLLIIFLALGVLIFATMIYYAERVGA | 408 |
| KCNC3 | RVVRFVRILRIFKLTRHFVGLRVLGHTLRA>S<TNEFLLLIIFLALGVLIFATMIYYAERIGA | 474 |
| KCNC4 | RVVRFVRILRIFKLTRHFVGLRVLGHTLRA>S<TNEFLLLIIFLALGVLIFATMIYYAERIGA | 407 |
| KCND1 | VTLRVFRVFRIFKFSRHSQGLRILGYTLKS>C<ASELGFLLFSLTMAIIIFATVMFYAEKGT- | 351 |
| KCND2 | VTLRVFRVFRIFKFSRHSQGLRILGYTLKS>C<ASELGFLLFSLTMAIIIFATVMFYAEKGS- | 349 |
| KCND3 | VTLRVFRVFRIFKFSRHSQGLRILGYTLKS>C<ASELGFLLFSLTMAIIIFATVMFYAEKGS- | 346 |
| KCNF1 | QALRIMRIARIFKLARHSSGLQTLTYALKR>S<FKELGLLLMYLAVGIFVFSALGYTMEQSH- | 349 |
| KCNG1 | RVLRALRILYVMRLARHSLGLQTLGLTARR>C<TREFGLLLLFLCVAIALFAPLLYVIENEM- | 402 |
| KCNG2 | RLLRALRVLYVMRLARHSLGLRSLGLTMRR>C<AREFGLLLLFLCVAMALFAPLVHLAEREL- | 347 |
| KCNG3 | RVLRMMRIFWVIKLARHFIGLQTLGLTLKR>C<YREMVMLLVFICVAMAIFSALSQLLEHGL- | 348 |
| KCNG4 | RVLRALRILYVMRLARHSLGLQTLGLTVRR>C<TREFGLLLLFLAVAITLFSPLVYVAEKES- | 396 |
| KCNS1 | QVFRLMRIFRVLKLARHSTGLRSLGATLKH>S<YREVGILLLYLAVGVSVFSGVAYTAEKEE- | 401 |
| KCNS2 | QVLRLMRIFRILKLARHSTGLRSLGATLKY>S<YKEVGLLLLYLSVGISIFSVVAYTIEKEE- | 354 |
| KCNS3 | QILRLMRIFRILKLARHSVGLRSLGATLRH>S<YHEVGLLLLFLSVGISIFSVLIYSVEKDD- | 349 |
| KCNV1 | QVLRLLRALRMLKLGRHSTGLRSLGMTITQ>C<YEEVGLLLLFLSVGISIFSTVEYFAEQSI- | 371 |
| KCNV2 | RVMRLMRIFRILKLARHSTGLRAFGFTLRQ>C<YQQVGCLLLFIAMGIFTFSAAVYSVEHDV- | 436 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H258N | c.772C>A | Inherited Arrhythmia | LQTS | rs199472717 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| p.H258P | c.773A>C | Inherited Arrhythmia | LQTS | rs199472718 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||
| Inherited Arrhythmia | LQTS | Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications. Clin Genet. 2013 83(4):370-4. doi: 10.1111/j.1399-0004.2012.01914.x 22708720 | |||
| p.H258R | c.773A>G | Inherited Arrhythmia | LQTS | rs199472718 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Inherited Arrhythmia | LQTS | The rate-dependent biophysical properties of the LQT1 H258R mutant are counteracted by a dominant negative effect on channel trafficking. J Mol Cell Cardiol. 2010 48(6):1096-104. 19913547 | |||
| p.H258Y | c.772C>T | Putative Benign | SIFT: Polyphen: | ||