No paralogue variants have been mapped to residue 299 for KCNJ2.
| KCNJ2 | VHEIDEDSPLYDLSKQDID-NADFEIVVIL>E<GMVEATAMTTQCRSSYLANEILWGHRYEPV | 329 |
| KCNJ1 | YHVIDHNSPFFHMAAETLL-QQDFELVVFL>D<GTVESTSATCQVRTSYVPEEVLWGYRFAPI | 328 |
| KCNJ3 | CHVIDAKSPFYDLSQRSMQ-TEQFEIVVIL>E<GIVETTGMTCQARTSYTEDEVLWGHRFFPV | 330 |
| KCNJ4 | VHEIDEDSPLYGMGKEELE-SEDFEIVVIL>E<GMVEATAMTTQARSSYLASEILWGHRFEPV | 321 |
| KCNJ5 | SHEINQKSPFWEMSQAQLH-QEEFEVVVIL>E<GMVEATGMTCQARSSYMDTEVLWGHRFTPV | 336 |
| KCNJ6 | SHEINQQSPFWEISKAQLP-KEELEIVVIL>E<GMVEATGMTCQARSSYITSEILWGYRFTPV | 339 |
| KCNJ8 | CHVIDKRSPLYDISATDLA-NQDLEVIVIL>E<GVVETTGITTQARTSYIAEEIQWGHRFVSI | 327 |
| KCNJ9 | SHEIDAASPFWEASRRALE-RDDFEIVVIL>E<GMVEATGMTCQARSSYLVDEVLWGHRFTSV | 307 |
| KCNJ10 | YHVVDETSPLKDLPLRSG--EGDFELVLIL>S<GTVESTSATCQVRTSYLPEEILWGYEFTPA | 314 |
| KCNJ11 | YHVIDANSPLYDLAPSDLHHHQDLEIIVIL>E<GVVETTGITTQARTSYLADEILWGQRFVPI | 318 |
| KCNJ12 | LHEIDEASPLFGISRQDLE-TDDFEIVVIL>E<GMVEATAMTTQARSSYLANEILWGHRFEPV | 330 |
| KCNJ13 | YHSITPSSPLATLLQHE-N-PSHFELVVFL>S<AMQEGTGEICQRRTSYLPSEIMLHHCFASL | 302 |
| KCNJ14 | VHEIDSASPLYELGRAELA-RADFELVVIL>E<GMVEATAMTTQCRSSYLPGELLWGHRFEPV | 334 |
| KCNJ15 | YHVLDETSPLRDLTPQNLK-EKEFELVVLL>N<ATVESTSAVCQSRTSYIPEEIYWGFEFVPV | 314 |
| KCNJ16 | VHEIDHESPLYALDRKAVA-KDNFEILVTF>I<YTGDSTGTSHQSRSSYVPREILWGHRFNDV | 313 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E299V | c.896A>T | Inherited Arrhythmia | SQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | SQTS | KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. Proc Natl Acad Sci U S A. 2013 110(11):4291-6. doi: 10.1073/pnas.1218154110. 23440193 | ||