Paralogue Annotation for KCNJ2 residue 309

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 309
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 309

No paralogue variants have been mapped to residue 309 for KCNJ2.



KCNJ2YDLSKQDID-NADFEIVVILEGMVEATAMT>T<QCRSSYLANEILWGHRYEPVLFEE-KHYYK338
KCNJ1FHMAAETLL-QQDFELVVFLDGTVESTSAT>C<QVRTSYVPEEVLWGYRFAPIVSKTKEGKYR338
KCNJ3YDLSQRSMQ-TEQFEIVVILEGIVETTGMT>C<QARTSYTEDEVLWGHRFFPVISLE-EGFFK339
KCNJ4YGMGKEELE-SEDFEIVVILEGMVEATAMT>T<QARSSYLASEILWGHRFEPVVFEE-KSHYK330
KCNJ5WEMSQAQLH-QEEFEVVVILEGMVEATGMT>C<QARSSYMDTEVLWGHRFTPVLTLE-KGFYE345
KCNJ6WEISKAQLP-KEELEIVVILEGMVEATGMT>C<QARSSYITSEILWGYRFTPVLTLE-DGFYE348
KCNJ8YDISATDLA-NQDLEVIVILEGVVETTGIT>T<QARTSYIAEEIQWGHRFVSIVTEE-EGVYS336
KCNJ9WEASRRALE-RDDFEIVVILEGMVEATGMT>C<QARSSYLVDEVLWGHRFTSVLTLE-DGFYE316
KCNJ10KDLPLRSG--EGDFELVLILSGTVESTSAT>C<QVRTSYLPEEILWGYEFTPAISLSASGKYI324
KCNJ11YDLAPSDLHHHQDLEIIVILEGVVETTGIT>T<QARTSYLADEILWGQRFVPIVAEE-DGRYS327
KCNJ12FGISRQDLE-TDDFEIVVILEGMVEATAMT>T<QARSSYLANEILWGHRFEPVLFEE-KNQYK339
KCNJ13ATLLQHE-N-PSHFELVVFLSAMQEGTGEI>C<QRRTSYLPSEIMLHHCFASLLTRGSKGEYQ312
KCNJ14YELGRAELA-RADFELVVILEGMVEATAMT>T<QCRSSYLPGELLWGHRFEPVLFQR-GSQYE343
KCNJ15RDLTPQNLK-EKEFELVVLLNATVESTSAV>C<QSRTSYIPEEIYWGFEFVPVVSLSKNGKYV324
KCNJ16YALDRKAVA-KDNFEILVTFIYTGDSTGTS>H<QSRSSYVPREILWGHRFNDVLEVK-RKYYK322
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T309Ic.926C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol. 2005 565(Pt 3):731-41. 15831539
Inherited ArrhythmiaLQTS Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872