| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ11 | G289V | Hyperinsulinism | High | 9 | 24401662 |
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 | HEIDEDSPLYDLSKQDID-NADFEIVVILE>G<MVEATAMTTQCRSSYLANEILWGHRYEPVL | 330 |
| KCNJ1 | HVIDHNSPFFHMAAETLL-QQDFELVVFLD>G<TVESTSATCQVRTSYVPEEVLWGYRFAPIV | 329 |
| KCNJ3 | HVIDAKSPFYDLSQRSMQ-TEQFEIVVILE>G<IVETTGMTCQARTSYTEDEVLWGHRFFPVI | 331 |
| KCNJ4 | HEIDEDSPLYGMGKEELE-SEDFEIVVILE>G<MVEATAMTTQARSSYLASEILWGHRFEPVV | 322 |
| KCNJ5 | HEINQKSPFWEMSQAQLH-QEEFEVVVILE>G<MVEATGMTCQARSSYMDTEVLWGHRFTPVL | 337 |
| KCNJ6 | HEINQQSPFWEISKAQLP-KEELEIVVILE>G<MVEATGMTCQARSSYITSEILWGYRFTPVL | 340 |
| KCNJ8 | HVIDKRSPLYDISATDLA-NQDLEVIVILE>G<VVETTGITTQARTSYIAEEIQWGHRFVSIV | 328 |
| KCNJ9 | HEIDAASPFWEASRRALE-RDDFEIVVILE>G<MVEATGMTCQARSSYLVDEVLWGHRFTSVL | 308 |
| KCNJ10 | HVVDETSPLKDLPLRSG--EGDFELVLILS>G<TVESTSATCQVRTSYLPEEILWGYEFTPAI | 315 |
| KCNJ11 | HVIDANSPLYDLAPSDLHHHQDLEIIVILE>G<VVETTGITTQARTSYLADEILWGQRFVPIV | 319 |
| KCNJ12 | HEIDEASPLFGISRQDLE-TDDFEIVVILE>G<MVEATAMTTQARSSYLANEILWGHRFEPVL | 331 |
| KCNJ13 | HSITPSSPLATLLQHE-N-PSHFELVVFLS>A<MQEGTGEICQRRTSYLPSEIMLHHCFASLL | 303 |
| KCNJ14 | HEIDSASPLYELGRAELA-RADFELVVILE>G<MVEATAMTTQCRSSYLPGELLWGHRFEPVL | 335 |
| KCNJ15 | HVLDETSPLRDLTPQNLK-EKEFELVVLLN>A<TVESTSAVCQSRTSYIPEEIYWGFEFVPVV | 315 |
| KCNJ16 | HEIDHESPLYALDRKAVA-KDNFEILVTFI>Y<TGDSTGTSHQSRSSYVPREILWGHRFNDVL | 314 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G300D | c.899G>A | Inherited Arrhythmia | LQTS | rs104894579 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 60(11):1811-6. 12796536 | ||
| 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 | Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063 | |||
| p.G300V | c.899G>T | Inherited Arrhythmia | LQTS | rs104894579 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 105(4):511-9. 11371347 | ||
| Inherited Arrhythmia | LQTS | Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 110(3):381-8. 12163457 | |||
| Inherited Arrhythmia | LQTS | Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872 | |||
| Inherited Arrhythmia | LQTS | Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. FASEB J. 2012 26(2):513-22. 22002906 | |||
| Inherited Arrhythmia | LQTS | Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. Cardiovasc Res. 2003 59(2):321-7. 12909315 | |||
| Inherited Arrhythmia | LQTS | Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 278(51):51779-85. 14522976 | |||
| p.G300A | c.899G>C | Inherited Arrhythmia | LQTS | rs104894579 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation. Clin Neurophysiol. 2011 122(12):2537-9. 21640645 | ||
| Other Disease Phenotype | Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis. J Hum Genet. 2014 59(8):465-6. doi: 10.1038/jhg.2014.43. 24849934 | ||||