No paralogue variants have been mapped to residue 260 for KCNJ2.
KCNJ2 | LKSRITSEGEYIPLDQIDINVGFD--SGID>R<IFLVSPITIVHEIDEDSPLYDLSKQDID-N | 289 |
KCNJ1 | LKTTVTPEGETIILDQININFVVD--AGNE>N<LFFISPLTIYHVIDHNSPFFHMAAETLL-Q | 288 |
KCNJ3 | LKSRQTPEGEFLPLDQLELDVGFS--TGAD>Q<LFLVSPLTICHVIDAKSPFYDLSQRSMQ-T | 290 |
KCNJ4 | IKPYMTQEGEYLPLDQRDLNVGYD--IGLD>R<IFLVSPIIIVHEIDEDSPLYGMGKEELE-S | 281 |
KCNJ5 | IKSRQTKEGEFIPLNQTDINVGFD--TGDD>R<LFLVSPLIISHEINQKSPFWEMSQAQLH-Q | 296 |
KCNJ6 | IKSKQTSEGEFIPLNQTDINVGYY--TGDD>R<LFLVSPLIISHEINQQSPFWEISKAQLP-K | 299 |
KCNJ8 | VKKTTTPEGEVVPIHQLDIPVDNP--IESN>N<IFLVAPLIICHVIDKRSPLYDISATDLA-N | 287 |
KCNJ9 | IRSRQTLEGEFIPLHQTDLSVGFD--TGDD>R<LFLVSPLVISHEIDAASPFWEASRRALE-R | 267 |
KCNJ10 | LQTHQTKEGENIRLNQVNVTFQVD--TASD>S<PFLILPLTFYHVVDETSPLKDLPLRSG--E | 274 |
KCNJ11 | VRKTTSPEGEVVPLHQVDIPMENG--VGGN>S<IFLVAPLIIYHVIDANSPLYDLAPSDLHHH | 278 |
KCNJ12 | IKPRVTEEGEYIPLDQIDIDVGFD--KGLD>R<IFLVSPITILHEIDEASPLFGISRQDLE-T | 290 |
KCNJ13 | YQERENGK----L-YQTSVDFHLDGISSDE>C<PFFIFPLTYYHSITPSSPLATLLQHE-N-P | 262 |
KCNJ14 | LQPRVTPEGEYIPLDHQDVDVGFD--GGTD>R<IFLVSPITIVHEIDSASPLYELGRAELA-R | 294 |
KCNJ15 | LQTHVTKEGERILLNQATVKFHVD--SSSE>S<PFLILPMTFYHVLDETSPLRDLTPQNLK-E | 274 |
KCNJ16 | LRYTEDSEGRM-TMAFKDLKLV------ND>Q<IILVTPVTIVHEIDHESPLYALDRKAVA-K | 273 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R260P | c.779G>C | Inherited Arrhythmia | LQTS | rs199473385 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | 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 Arrhythmia | LQTS | 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 |