| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | R325G | Epileptic encephalopathy, neonatal | High | 7 | 24107868 |
| KCNQ3 | R364H | Seizures, benign infantile | High | 7 | 25278462 |
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 | SCFSVFAISFFALPAGILGSGFALKVQQKQ>R<QKHFNRQIPA--AASLI-QTAWRCY---A- | 383 |
| KCNQ2 | ATFTLIGVSFFALPAGILGSGFALKVQEQH>R<QKHFEKRRNP--AAGLI-QSAWRFY---A- | 348 |
| KCNQ3 | ATFSLIGVSFFALPAGILGSGLALKVQEQH>R<QKHFEKRRKP--AAELI-QAAWRYY---A- | 387 |
| KCNQ4 | AGFALLGISFFALPAGILGSGFALKVQEQH>R<QKHFEKRRMP--AANLI-QAAWRLY---S- | 354 |
| KCNQ5 | AGFALLGISFFALPAGILGSGFALKVQEQH>R<QKHFEKRRNP--AANLI-QCVWRSY---A- | 382 |
| KCNA1 | SLCAIAGVLTIALPVPVIVSNFNYFYHRET>E<GEEQAQLLH-----VS--SP-NLAS---D- | 438 |
| KCNA10 | TLCAIAGVLTIALPVPVIVSNFNYFYHRET>E<NEEKQNIPGEIERI---------------- | 483 |
| KCNA2 | SLCAIAGVLTIALPVPVIVSNFNYFYHRET>E<GEEQAQYLQ-----VT--SCPKIPS---S- | 441 |
| KCNA3 | SLCAIAGVLTIALPVPVIVSNFNYFYHRET>E<GEEQSQYMH-----VG--SCQHLSS-S-A- | 512 |
| KCNA4 | SLCAIAGVLTIALPVPVIVSNFNYFYHRET>E<NEEQTQLTQ-----NAV-SCPYLPS-N-LL | 594 |
| KCNA5 | SLCAIAGVLTIALPVPVIVSNFNYFYHRET>D<HEEPAVLKEE--QGTQS-QGPGLDR-G-V- | 552 |
| KCNA6 | SLCAIAGVLTIALPVPVIVSNFNYFYHRET>E<QEEQGQYTHV-------------TC-G--- | 483 |
| KCNA7 | SLCAIAGVLTISLPVPVIVSNFSYFYHRET>E<GEEAGMFSHV-------------DM-Q-P- | 420 |
| KCNB1 | GLCCIAGVLVIALPIPIIVNNFSEFYKEQK>R<QEKAIKRREA--LERA--KRNG---SIVS- | 447 |
| KCNB2 | GLCCIAGVLVIALPIPIIVNNFSEFYKEQK>R<QEKAIKRREA--LERA--KRNG---SIVS- | 451 |
| KCNC1 | ALCALAGVLTIAMPVPVIVNNFGMYYSLAM>A<KQKLPKKKKK--HIPR--PPQLGSP---N- | 470 |
| KCNC2 | ALCALAGVLTIAMPVPVIVNNFGMYYSLAM>A<KQKLPRKRKK--HIPP--APQASSP---T- | 507 |
| KCNC3 | ALCALAGVLTIAMPVPVIVNNFGMYYSLAM>A<KQKLPKKKNK--HIPR--PPQPGSP---N- | 573 |
| KCNC4 | ALCALAGVLTIAMPVPVIVNNFGMYYSLAM>A<KQKLPKKRKK--HVPR--PAQLESP---M- | 506 |
| KCND1 | SICSLSGVLVIALPVPVIVSNFSRIYHQNQ>R<ADKRRAQQKV--RLARIRLAKSGTT---N- | 444 |
| KCND2 | SICSLSGVLVIALPVPVIVSNFSRIYHQNQ>R<ADKRRAQKKA--RLARIRAAKSGSA---N- | 442 |
| KCND3 | SICSLSGVLVIALPVPVIVSNFSRIYHQNQ>R<ADKRRAQKKA--RLARIRVAKTGSS---N- | 439 |
| KCNF1 | AISFLCGVIAIALPIHPIINNFVRYYNKQR>V<LETAAKHELE--LMEL--N------SSSG- | 437 |
| KCNG1 | LSSILSGILLMAFPVTSIFHTFSRSYLELK>Q<EQERVMFRRA--QFLI----K-TKSQLSV- | 494 |
| KCNG2 | LSSILSGILLMAFPVTSIFHTFSRSYSELK>E<QQQRAASPEP--ALQE----D-STHSATA- | 439 |
| KCNG3 | GVCVVSGIVLLALPITFIYHSFVQCYHELK>F<RSARYSR-----------------SLSTE- | 433 |
| KCNG4 | LSSILSGILIMAFPATSIFHTFSHSYLELK>K<EQEQLQARLR--HLQN----T-GPASECE- | 488 |
| KCNS1 | SGCILGGILVVALPITIIFNKFSHFYRRQK>A<LEAAVRNSNH--QEFE--D------LLSS- | 488 |
| KCNS2 | SACILAGILVVVLPITLIFNKFSHFYRRQK>Q<LESAMRSCDF--GDGM--K------EVPS- | 441 |
| KCNS3 | STCIICGILVVALPITIIFNKFSKYYQKQK>D<IDVDQCSEDA--PEKC--H------ELPY- | 437 |
| KCNV1 | FMCILSGILVLALPIAIINDRFSACYFTLK>L<KEAAVRQREA--LKKL--TKNIATDSYIS- | 465 |
| KCNV2 | FLCIAFGIILNGMPISILYNKFSDYYSKLK>A<YEYTTIRRER--GEVN--F------MQRA- | 524 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R360G | c.1078A>G | Inherited Arrhythmia | LQTS | rs199473406 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | ||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| Inherited Arrhythmia | LQTS | Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(4):417-26. 19808498 | |||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.R360M | c.1079G>T | Inherited Arrhythmia | LQTS | rs199473407 | 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 | ||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.R360T | c.1079G>C | Inherited Arrhythmia | LQTS | rs199473407 | 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 | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.Arg360Trp | c.1078A>T | Unknown | SIFT: Polyphen: | ||