Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNQ2 | K552T | Epileptic encephalopathy, neonatal | Medium | 2 | 24107868 |
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 | -----------IRRMQ----------YFVA>K<KKFQQARKPYDVRDVIEQYSQGHLNLMVRI | 556 |
KCNQ2 | -----------VCVMR----------FLVS>K<RKFKESLRPYDVMDVIEQYSAGHLDMLSRI | 582 |
KCNQ3 | -----------VRILQ----------FRLY>K<KKFKETLRPYDVKDVIEQYSAGHLDMLSRI | 561 |
KCNQ4 | -----------IRILK----------FLVA>K<RKFKETLRPYDVKDVIEQYSAGHLDMLGRI | 576 |
KCNQ5 | -----------IRIMK----------FHVA>K<RKFKETLRPYDVKDVIEQYSAGHLDMLCRI | 564 |
KCNA1 | -----------KSKLL----------TD-->-<------------------------------ | 494 |
KCNA10 | -----------CSTEK----------SR-->-<------------------------------ | 510 |
KCNA2 | -----------ITKML----------TD-->-<------------------------------ | 498 |
KCNA3 | -----------IKKIF----------TD-->-<------------------------------ | 574 |
KCNA4 | -----------AKAVE----------TD-->-<------------------------------ | 652 |
KCNA5 | -----------LRRSLYALCLDTSRETD-->-<------------------------------ | 612 |
KCNA6 | -----------EKRML----------TE-->-<------------------------------ | 528 |
KCNA7 | -----------GKHLV----------TE-->-<------------------------------ | 455 |
KCNB1 | -----------KVNFM----------EG-->-<----DPSPLLPVLGMYHDPLRNRGSAAAAV | 705 |
KCNB2 | -----------KVNFK----------ENRG>S<APQTPPSTARPLPVTTADFSLTTPQHISTI | 755 |
KCNC1 | -----------P-CFL----------LSTG>E<YACPPGGGMRK----------DLCKESP-- | 571 |
KCNC2 | -----------ETCFL----------LTTG>D<YTCASDGGIRKG----YEKSRSLNNIAGLA | 608 |
KCNC3 | -----------RACFL----------LT-->D<YAPSPDGSIRKATGAPPLPPQDWRKPGPPS | 742 |
KCNC4 | -----------AACFL----------LSTG>D<YACA-DGSVRKG----TFVLRDLPLQHSP- | 620 |
KCND1 | LANSTASVS-RGSMQE----------LDML>A<--GLRRSHAPQSRSSLNAKPHDSLDLNCDS | 591 |
KCND2 | IPNANVSGSHQGSIQE----------LSTI>Q<IRCVERTPLSNSRSSLNAKMEECVKLNCEQ | 590 |
KCND3 | LPNSNLPATRLRSMQE----------LSTI>H<IQGSEQPSLTTSRSSLNLKADDGLRPNCKT | 607 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K526E | c.1576A>G | Inherited Arrhythmia | LQTS | rs199472792 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
p.K526Q | c.1576A>C | Putative Benign | SIFT: Polyphen: |