Paralogue Annotation for KCNJ2 residue 302

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 302
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 302

No paralogue variants have been mapped to residue 302 for KCNJ2.



KCNJ2IDEDSPLYDLSKQDID-NADFEIVVILEGM>V<EATAMTTQCRSSYLANEILWGHRYEPVLFE332
KCNJ1IDHNSPFFHMAAETLL-QQDFELVVFLDGT>V<ESTSATCQVRTSYVPEEVLWGYRFAPIVSK331
KCNJ3IDAKSPFYDLSQRSMQ-TEQFEIVVILEGI>V<ETTGMTCQARTSYTEDEVLWGHRFFPVISL333
KCNJ4IDEDSPLYGMGKEELE-SEDFEIVVILEGM>V<EATAMTTQARSSYLASEILWGHRFEPVVFE324
KCNJ5INQKSPFWEMSQAQLH-QEEFEVVVILEGM>V<EATGMTCQARSSYMDTEVLWGHRFTPVLTL339
KCNJ6INQQSPFWEISKAQLP-KEELEIVVILEGM>V<EATGMTCQARSSYITSEILWGYRFTPVLTL342
KCNJ8IDKRSPLYDISATDLA-NQDLEVIVILEGV>V<ETTGITTQARTSYIAEEIQWGHRFVSIVTE330
KCNJ9IDAASPFWEASRRALE-RDDFEIVVILEGM>V<EATGMTCQARSSYLVDEVLWGHRFTSVLTL310
KCNJ10VDETSPLKDLPLRSG--EGDFELVLILSGT>V<ESTSATCQVRTSYLPEEILWGYEFTPAISL317
KCNJ11IDANSPLYDLAPSDLHHHQDLEIIVILEGV>V<ETTGITTQARTSYLADEILWGQRFVPIVAE321
KCNJ12IDEASPLFGISRQDLE-TDDFEIVVILEGM>V<EATAMTTQARSSYLANEILWGHRFEPVLFE333
KCNJ13ITPSSPLATLLQHE-N-PSHFELVVFLSAM>Q<EGTGEICQRRTSYLPSEIMLHHCFASLLTR305
KCNJ14IDSASPLYELGRAELA-RADFELVVILEGM>V<EATAMTTQCRSSYLPGELLWGHRFEPVLFQ337
KCNJ15LDETSPLRDLTPQNLK-EKEFELVVLLNAT>V<ESTSAVCQSRTSYIPEEIYWGFEFVPVVSL317
KCNJ16IDHESPLYALDRKAVA-KDNFEILVTFIYT>G<DSTGTSHQSRSSYVPREILWGHRFNDVLEV316
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V302Mc.904G>A Inherited ArrhythmiaLQTSrs104894582SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 110(3):381-8. 12163457
Inherited ArrhythmiaLQTS Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. FASEB J. 2012 26(2):513-22. 22002906
Inherited ArrhythmiaLQTS Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 278(51):51779-85. 14522976