Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNJ11 | V290M | Hyperinsulinism | Medium | 9 | 20980454, 20980454, 24383515 |
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 KCNJ2.
KCNJ2 | EIDEDSPLYDLSKQDID-NADFEIVVILEG>M<VEATAMTTQCRSSYLANEILWGHRYEPVLF | 331 |
KCNJ1 | VIDHNSPFFHMAAETLL-QQDFELVVFLDG>T<VESTSATCQVRTSYVPEEVLWGYRFAPIVS | 330 |
KCNJ3 | VIDAKSPFYDLSQRSMQ-TEQFEIVVILEG>I<VETTGMTCQARTSYTEDEVLWGHRFFPVIS | 332 |
KCNJ4 | EIDEDSPLYGMGKEELE-SEDFEIVVILEG>M<VEATAMTTQARSSYLASEILWGHRFEPVVF | 323 |
KCNJ5 | EINQKSPFWEMSQAQLH-QEEFEVVVILEG>M<VEATGMTCQARSSYMDTEVLWGHRFTPVLT | 338 |
KCNJ6 | EINQQSPFWEISKAQLP-KEELEIVVILEG>M<VEATGMTCQARSSYITSEILWGYRFTPVLT | 341 |
KCNJ8 | VIDKRSPLYDISATDLA-NQDLEVIVILEG>V<VETTGITTQARTSYIAEEIQWGHRFVSIVT | 329 |
KCNJ9 | EIDAASPFWEASRRALE-RDDFEIVVILEG>M<VEATGMTCQARSSYLVDEVLWGHRFTSVLT | 309 |
KCNJ10 | VVDETSPLKDLPLRSG--EGDFELVLILSG>T<VESTSATCQVRTSYLPEEILWGYEFTPAIS | 316 |
KCNJ11 | VIDANSPLYDLAPSDLHHHQDLEIIVILEG>V<VETTGITTQARTSYLADEILWGQRFVPIVA | 320 |
KCNJ12 | EIDEASPLFGISRQDLE-TDDFEIVVILEG>M<VEATAMTTQARSSYLANEILWGHRFEPVLF | 332 |
KCNJ13 | SITPSSPLATLLQHE-N-PSHFELVVFLSA>M<QEGTGEICQRRTSYLPSEIMLHHCFASLLT | 304 |
KCNJ14 | EIDSASPLYELGRAELA-RADFELVVILEG>M<VEATAMTTQCRSSYLPGELLWGHRFEPVLF | 336 |
KCNJ15 | VLDETSPLRDLTPQNLK-EKEFELVVLLNA>T<VESTSAVCQSRTSYIPEEIYWGFEFVPVVS | 316 |
KCNJ16 | EIDHESPLYALDRKAVA-KDNFEILVTFIY>T<GDSTGTSHQSRSSYVPREILWGHRFNDVLE | 315 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M301K | c.902T>A | Inherited Arrhythmia | SQTS,AF | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | SQTS | A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. Cardiovasc Res. 2012 93(4):666-73. 22155372 | ||
Inherited Arrhythmia | AF | A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels. Heart Rhythm. 2014 11(1):67-75. doi: 10.1016/j.hrthm.2013.09.073. 24096004 | |||
p.Met301Arg | c.902T>G | Unknown | SIFT: Polyphen: | ||
p.Met301Val | c.901A>G | Unknown | SIFT: Polyphen: |