Paralogue Annotation for KCNJ2 residue 301

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 301
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 301

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11V290MHyperinsulinismMedium9 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.



KCNJ2EIDEDSPLYDLSKQDID-NADFEIVVILEG>M<VEATAMTTQCRSSYLANEILWGHRYEPVLF331
KCNJ1VIDHNSPFFHMAAETLL-QQDFELVVFLDG>T<VESTSATCQVRTSYVPEEVLWGYRFAPIVS330
KCNJ3VIDAKSPFYDLSQRSMQ-TEQFEIVVILEG>I<VETTGMTCQARTSYTEDEVLWGHRFFPVIS332
KCNJ4EIDEDSPLYGMGKEELE-SEDFEIVVILEG>M<VEATAMTTQARSSYLASEILWGHRFEPVVF323
KCNJ5EINQKSPFWEMSQAQLH-QEEFEVVVILEG>M<VEATGMTCQARSSYMDTEVLWGHRFTPVLT338
KCNJ6EINQQSPFWEISKAQLP-KEELEIVVILEG>M<VEATGMTCQARSSYITSEILWGYRFTPVLT341
KCNJ8VIDKRSPLYDISATDLA-NQDLEVIVILEG>V<VETTGITTQARTSYIAEEIQWGHRFVSIVT329
KCNJ9EIDAASPFWEASRRALE-RDDFEIVVILEG>M<VEATGMTCQARSSYLVDEVLWGHRFTSVLT309
KCNJ10VVDETSPLKDLPLRSG--EGDFELVLILSG>T<VESTSATCQVRTSYLPEEILWGYEFTPAIS316
KCNJ11VIDANSPLYDLAPSDLHHHQDLEIIVILEG>V<VETTGITTQARTSYLADEILWGQRFVPIVA320
KCNJ12EIDEASPLFGISRQDLE-TDDFEIVVILEG>M<VEATAMTTQARSSYLANEILWGHRFEPVLF332
KCNJ13SITPSSPLATLLQHE-N-PSHFELVVFLSA>M<QEGTGEICQRRTSYLPSEIMLHHCFASLLT304
KCNJ14EIDSASPLYELGRAELA-RADFELVVILEG>M<VEATAMTTQCRSSYLPGELLWGHRFEPVLF336
KCNJ15VLDETSPLRDLTPQNLK-EKEFELVVLLNA>T<VESTSAVCQSRTSYIPEEIYWGFEFVPVVS316
KCNJ16EIDHESPLYALDRKAVA-KDNFEILVTFIY>T<GDSTGTSHQSRSSYVPREILWGHRFNDVLE315
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M301Kc.902T>A Inherited ArrhythmiaSQTS,AFSIFT:
Polyphen:
ReportsInherited ArrhythmiaSQTS 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 ArrhythmiaAF 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.Met301Argc.902T>G UnknownSIFT:
Polyphen:
p.Met301Valc.901A>G UnknownSIFT:
Polyphen: