| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | W344R | Epilepsy, benign neonatal | Medium | 2 | 24375629, 26073431 |
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 | ALKVQQKQRQKHFNRQIPA--AASLI-QTA>W<RCY---A-A-ENPD------S--------- | 389 |
| KCNQ2 | ALKVQEQHRQKHFEKRRNP--AAGLI-QSA>W<RFY---A-T-NLSRTD---LH--------- | 357 |
| KCNQ3 | ALKVQEQHRQKHFEKRRKP--AAELI-QAA>W<RYY---A-T-NPNRID---LV--------- | 396 |
| KCNQ4 | ALKVQEQHRQKHFEKRRMP--AANLI-QAA>W<RLY---S-T-DMSRAY---LT--------- | 363 |
| KCNQ5 | ALKVQEQHRQKHFEKRRNP--AANLI-QCV>W<RSY---A-A-DE-KSV---SI--------- | 390 |
| KCNA1 | NYFYHRETEGEEQAQLLH-----VS--SP->N<LAS---D-S--------------------- | 439 |
| KCNA10 | NYFYHRETENEEKQNIPGEIERI------->-<------------------------------ | 483 |
| KCNA2 | NYFYHRETEGEEQAQYLQ-----VT--SCP>K<IPS---S-P--------------------- | 442 |
| KCNA3 | NYFYHRETEGEEQSQYMH-----VG--SCQ>H<LSS-S-A-E--------------------- | 513 |
| KCNA4 | NYFYHRETENEEQTQLTQ-----NAV-SCP>Y<LPS-N-LLK--------------------- | 595 |
| KCNA5 | NYFYHRETDHEEPAVLKEE--QGTQS-QGP>G<LDR-G-V-Q-R------------------- | 554 |
| KCNA6 | NYFYHRETEQEEQGQYTHV----------->-<-TC-G------------------------- | 483 |
| KCNA7 | SYFYHRETEGEEAGMFSHV----------->-<-DM-Q-P-C--------------------- | 421 |
| KCNB1 | SEFYKEQKRQEKAIKRREA--LERA--KRN>G<---SIVS-M-N------------------- | 449 |
| KCNB2 | SEFYKEQKRQEKAIKRREA--LERA--KRN>G<---SIVS-M-N------------------- | 453 |
| KCNC1 | GMYYSLAMAKQKLPKKKKK--HIPR--PPQ>L<GSP---N-YCK---S-----V--------- | 475 |
| KCNC2 | GMYYSLAMAKQKLPRKRKK--HIPP--APQ>A<SSP---T-FCK---T-----E--------- | 512 |
| KCNC3 | GMYYSLAMAKQKLPKKKNK--HIPR--PPQ>P<GSP---N-YCK---PDPPPPPPPHPHHGSG | 592 |
| KCNC4 | GMYYSLAMAKQKLPKKRKK--HVPR--PAQ>L<ESP---M-YCK---S-----E--------- | 511 |
| KCND1 | SRIYHQNQRADKRRAQQKV--RLARIRLAK>S<GTT---N---A------------------- | 445 |
| KCND2 | SRIYHQNQRADKRRAQKKA--RLARIRAAK>S<GSA---N---A------------------- | 443 |
| KCND3 | SRIYHQNQRADKRRAQKKA--RLARIRVAK>T<GSS---N---A------------------- | 440 |
| KCNF1 | VRYYNKQRVLETAAKHELE--LMEL--N-->-<---SSSG-G-E------------------- | 439 |
| KCNG1 | SRSYLELKQEQERVMFRRA--QFLI----K>-<TKSQLSV----------------------- | 494 |
| KCNG2 | SRSYSELKEQQQRAASPEP--ALQE----D>-<STHSATA----------------------- | 439 |
| KCNG3 | VQCYHELKFRSARYSR-------------->-<--SLSTE----------------------- | 433 |
| KCNG4 | SHSYLELKKEQEQLQARLR--HLQN----T>-<GPASECE-LLD---P--------------- | 492 |
| KCNS1 | SHFYRRQKALEAAVRNSNH--QEFE--D-->-<---LLSS-I-D------------------- | 490 |
| KCNS2 | SHFYRRQKQLESAMRSCDF--GDGM--K-->-<---EVPS-V-N------------------- | 443 |
| KCNS3 | SKYYQKQKDIDVDQCSEDA--PEKC--H-->-<---ELPY-F-N------------------- | 439 |
| KCNV1 | SACYFTLKLKEAAVRQREA--LKKL--TKN>I<ATDSYIS-V-N------------------- | 467 |
| KCNV2 | SDYYSKLKAYEYTTIRRER--GEVN--F-->-<---MQRA-R-K------------------- | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.W379G | c.1135T>G | Inherited Arrhythmia | LQTS | rs199472768 | 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.W379R | c.1135T>C | Inherited Arrhythmia | LQTS | rs199472768 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007 49(2):240-6. 17222736 | |||
| Inherited Arrhythmia | LQTS | Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073 | |||
| Other Cardiac Phenotype | High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015 5:10009. doi: 10.1038/srep10009. 26066609 | ||||
| p.W379S | c.1136G>C | Inherited Arrhythmia | LQTS | rs199472769 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | ||