Paralogue Annotation for KCNJ2 residue 260

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 260
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 260

No paralogue variants have been mapped to residue 260 for KCNJ2.



KCNJ2LKSRITSEGEYIPLDQIDINVGFD--SGID>R<IFLVSPITIVHEIDEDSPLYDLSKQDID-N289
KCNJ1LKTTVTPEGETIILDQININFVVD--AGNE>N<LFFISPLTIYHVIDHNSPFFHMAAETLL-Q288
KCNJ3LKSRQTPEGEFLPLDQLELDVGFS--TGAD>Q<LFLVSPLTICHVIDAKSPFYDLSQRSMQ-T290
KCNJ4IKPYMTQEGEYLPLDQRDLNVGYD--IGLD>R<IFLVSPIIIVHEIDEDSPLYGMGKEELE-S281
KCNJ5IKSRQTKEGEFIPLNQTDINVGFD--TGDD>R<LFLVSPLIISHEINQKSPFWEMSQAQLH-Q296
KCNJ6IKSKQTSEGEFIPLNQTDINVGYY--TGDD>R<LFLVSPLIISHEINQQSPFWEISKAQLP-K299
KCNJ8VKKTTTPEGEVVPIHQLDIPVDNP--IESN>N<IFLVAPLIICHVIDKRSPLYDISATDLA-N287
KCNJ9IRSRQTLEGEFIPLHQTDLSVGFD--TGDD>R<LFLVSPLVISHEIDAASPFWEASRRALE-R267
KCNJ10LQTHQTKEGENIRLNQVNVTFQVD--TASD>S<PFLILPLTFYHVVDETSPLKDLPLRSG--E274
KCNJ11VRKTTSPEGEVVPLHQVDIPMENG--VGGN>S<IFLVAPLIIYHVIDANSPLYDLAPSDLHHH278
KCNJ12IKPRVTEEGEYIPLDQIDIDVGFD--KGLD>R<IFLVSPITILHEIDEASPLFGISRQDLE-T290
KCNJ13YQERENGK----L-YQTSVDFHLDGISSDE>C<PFFIFPLTYYHSITPSSPLATLLQHE-N-P262
KCNJ14LQPRVTPEGEYIPLDHQDVDVGFD--GGTD>R<IFLVSPITIVHEIDSASPLYELGRAELA-R294
KCNJ15LQTHVTKEGERILLNQATVKFHVD--SSSE>S<PFLILPMTFYHVLDETSPLRDLTPQNLK-E274
KCNJ16LRYTEDSEGRM-TMAFKDLKLV------ND>Q<IILVTPVTIVHEIDHESPLYALDRKAVA-K273
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R260Pc.779G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. Circ Cardiovasc Genet. 2011 4(1):51-7. 21148745
Inherited ArrhythmiaLQTS New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405