No paralogue variants have been mapped to residue 400 for KCNJ2.
| KCNJ2 | ALTSKEEDDSENGVPE------STS----->T<DT---------------------------- | 402 |
| KCNJ1 | ARMK--RG-YDN------------------>-<------------------------------ | 375 |
| KCNJ3 | DGLDDITTKLPSKLQK------ITG----->R<EDFPKKLLRMSSTTSEKAYSLGDLPMKLQR | 439 |
| KCNJ4 | ALMSQEEEEMEEEAAAAAAVAAGLGLEAGS>K<EE---------------------------- | 410 |
| KCNJ5 | AEA-E------------------------->-<-----------------------QNEEDEP | 406 |
| KCNJ6 | EEEKN------------------------->-<-----------------------LEEQTER | 410 |
| KCNJ8 | RKRNSMRRNNSMRRNN------SIR----->R<N----------------------------- | 401 |
| KCNJ9 | GEGAG------------------------->-<---------------------GEAGADKEQ | 380 |
| KCNJ10 | EESL--R---EQ------------------>-<------------------------------ | 364 |
| KCNJ11 | RKRS-------------------------->-<------------------------------ | 372 |
| KCNJ12 | AFLSRDEEDEADGDQD------GRS----->R<DG---------------------------- | 403 |
| KCNJ13 | DLDIHINGQSID------------------>-<------------------------------ | 349 |
| KCNJ14 | ALSCCQEEDEDDETEE------GNG----->V<ET---------------------------- | 416 |
| KCNJ15 | EEKY--RQ-EDQ------------------>-<------------------------------ | 360 |
| KCNJ16 | SFSAVAIVSSCENP-E------ETT----->T<SA---------------------------- | 393 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T400M | c.1199C>T | Inherited Arrhythmia | LQTS | rs144022753 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | KCNJ2 variant of unknown significance reclassified as long QT syndrome causing ventricular fibrillation. Can J Cardiol. 2011 27(6):870.e11-3. 21875779 | ||
| 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.T400R | c.1199C>G | Putative Benign | SIFT: Polyphen: | ||