| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ11 | T294M | Hyperinsulinism | High | 9 | 20049716, 20589481 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.
| KCNJ2 | DSPLYDLSKQDID-NADFEIVVILEGMVEA>T<AMTTQCRSSYLANEILWGHRYEPVLFEE-K | 334 |
| KCNJ1 | NSPFFHMAAETLL-QQDFELVVFLDGTVES>T<SATCQVRTSYVPEEVLWGYRFAPIVSKTKE | 334 |
| KCNJ3 | KSPFYDLSQRSMQ-TEQFEIVVILEGIVET>T<GMTCQARTSYTEDEVLWGHRFFPVISLE-E | 335 |
| KCNJ4 | DSPLYGMGKEELE-SEDFEIVVILEGMVEA>T<AMTTQARSSYLASEILWGHRFEPVVFEE-K | 326 |
| KCNJ5 | KSPFWEMSQAQLH-QEEFEVVVILEGMVEA>T<GMTCQARSSYMDTEVLWGHRFTPVLTLE-K | 341 |
| KCNJ6 | QSPFWEISKAQLP-KEELEIVVILEGMVEA>T<GMTCQARSSYITSEILWGYRFTPVLTLE-D | 344 |
| KCNJ8 | RSPLYDISATDLA-NQDLEVIVILEGVVET>T<GITTQARTSYIAEEIQWGHRFVSIVTEE-E | 332 |
| KCNJ9 | ASPFWEASRRALE-RDDFEIVVILEGMVEA>T<GMTCQARSSYLVDEVLWGHRFTSVLTLE-D | 312 |
| KCNJ10 | TSPLKDLPLRSG--EGDFELVLILSGTVES>T<SATCQVRTSYLPEEILWGYEFTPAISLSAS | 320 |
| KCNJ11 | NSPLYDLAPSDLHHHQDLEIIVILEGVVET>T<GITTQARTSYLADEILWGQRFVPIVAEE-D | 323 |
| KCNJ12 | ASPLFGISRQDLE-TDDFEIVVILEGMVEA>T<AMTTQARSSYLANEILWGHRFEPVLFEE-K | 335 |
| KCNJ13 | SSPLATLLQHE-N-PSHFELVVFLSAMQEG>T<GEICQRRTSYLPSEIMLHHCFASLLTRGSK | 308 |
| KCNJ14 | ASPLYELGRAELA-RADFELVVILEGMVEA>T<AMTTQCRSSYLPGELLWGHRFEPVLFQR-G | 339 |
| KCNJ15 | TSPLRDLTPQNLK-EKEFELVVLLNATVES>T<SAVCQSRTSYIPEEIYWGFEFVPVVSLSKN | 320 |
| KCNJ16 | ESPLYALDRKAVA-KDNFEILVTFIYTGDS>T<GTSHQSRSSYVPREILWGHRFNDVLEVK-R | 318 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T305A | c.913A>G | Other Cardiac Phenotype | rs199473387 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. Heart Rhythm. 2007 4(3):323-9. 17341397 | |||
| p.T305P | c.913A>C | Inherited Arrhythmia | LQTS | rs199473387 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. Hum Mol Genet. 2007 16(8):900-6. 17324964 | ||
| Inherited Arrhythmia | LQTS | Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365 | |||
| p.T305S | c.914C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Phenotype variability in patients carrying KCNJ2 mutations. Circ Cardiovasc Genet. 2012 5(3):344-53. doi: 10.1161/CIRCGENETICS.111.962316. 22589293 | ||
| Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome associated with aborted sudden cardiac death: atrial pacing was effective for ventricular arrhythmias. Am J Med Sci. 2012 344(3):248-50. doi: 10.1097/MAJ.0b013e3182560209. 22739561 | |||
| 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 | |||