No paralogue variants have been mapped to residue 309 for KCNJ2.
KCNJ2 | YDLSKQDID-NADFEIVVILEGMVEATAMT>T<QCRSSYLANEILWGHRYEPVLFEE-KHYYK | 338 |
KCNJ1 | FHMAAETLL-QQDFELVVFLDGTVESTSAT>C<QVRTSYVPEEVLWGYRFAPIVSKTKEGKYR | 338 |
KCNJ3 | YDLSQRSMQ-TEQFEIVVILEGIVETTGMT>C<QARTSYTEDEVLWGHRFFPVISLE-EGFFK | 339 |
KCNJ4 | YGMGKEELE-SEDFEIVVILEGMVEATAMT>T<QARSSYLASEILWGHRFEPVVFEE-KSHYK | 330 |
KCNJ5 | WEMSQAQLH-QEEFEVVVILEGMVEATGMT>C<QARSSYMDTEVLWGHRFTPVLTLE-KGFYE | 345 |
KCNJ6 | WEISKAQLP-KEELEIVVILEGMVEATGMT>C<QARSSYITSEILWGYRFTPVLTLE-DGFYE | 348 |
KCNJ8 | YDISATDLA-NQDLEVIVILEGVVETTGIT>T<QARTSYIAEEIQWGHRFVSIVTEE-EGVYS | 336 |
KCNJ9 | WEASRRALE-RDDFEIVVILEGMVEATGMT>C<QARSSYLVDEVLWGHRFTSVLTLE-DGFYE | 316 |
KCNJ10 | KDLPLRSG--EGDFELVLILSGTVESTSAT>C<QVRTSYLPEEILWGYEFTPAISLSASGKYI | 324 |
KCNJ11 | YDLAPSDLHHHQDLEIIVILEGVVETTGIT>T<QARTSYLADEILWGQRFVPIVAEE-DGRYS | 327 |
KCNJ12 | FGISRQDLE-TDDFEIVVILEGMVEATAMT>T<QARSSYLANEILWGHRFEPVLFEE-KNQYK | 339 |
KCNJ13 | ATLLQHE-N-PSHFELVVFLSAMQEGTGEI>C<QRRTSYLPSEIMLHHCFASLLTRGSKGEYQ | 312 |
KCNJ14 | YELGRAELA-RADFELVVILEGMVEATAMT>T<QCRSSYLPGELLWGHRFEPVLFQR-GSQYE | 343 |
KCNJ15 | RDLTPQNLK-EKEFELVVLLNATVESTSAV>C<QSRTSYIPEEIYWGFEFVPVVSLSKNGKYV | 324 |
KCNJ16 | YALDRKAVA-KDNFEILVTFIYTGDSTGTS>H<QSRSSYVPREILWGHRFNDVLEVK-RKYYK | 322 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T309I | c.926C>T | Inherited Arrhythmia | LQTS | rs199473388 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol. 2005 565(Pt 3):731-41. 15831539 | ||
Inherited Arrhythmia | LQTS | Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872 |