| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ1 | A306T | Bartter syndrome | Medium | 9 | 12911542 |
| KCNJ11 | I296L | Diabetes, permanent neonatal | Medium | 9 | 15115830, 16731837, 15864298 |
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 | PLYDLSKQDID-NADFEIVVILEGMVEATA>M<TTQCRSSYLANEILWGHRYEPVLFEE-KHY | 336 |
| KCNJ1 | PFFHMAAETLL-QQDFELVVFLDGTVESTS>A<TCQVRTSYVPEEVLWGYRFAPIVSKTKEGK | 336 |
| KCNJ3 | PFYDLSQRSMQ-TEQFEIVVILEGIVETTG>M<TCQARTSYTEDEVLWGHRFFPVISLE-EGF | 337 |
| KCNJ4 | PLYGMGKEELE-SEDFEIVVILEGMVEATA>M<TTQARSSYLASEILWGHRFEPVVFEE-KSH | 328 |
| KCNJ5 | PFWEMSQAQLH-QEEFEVVVILEGMVEATG>M<TCQARSSYMDTEVLWGHRFTPVLTLE-KGF | 343 |
| KCNJ6 | PFWEISKAQLP-KEELEIVVILEGMVEATG>M<TCQARSSYITSEILWGYRFTPVLTLE-DGF | 346 |
| KCNJ8 | PLYDISATDLA-NQDLEVIVILEGVVETTG>I<TTQARTSYIAEEIQWGHRFVSIVTEE-EGV | 334 |
| KCNJ9 | PFWEASRRALE-RDDFEIVVILEGMVEATG>M<TCQARSSYLVDEVLWGHRFTSVLTLE-DGF | 314 |
| KCNJ10 | PLKDLPLRSG--EGDFELVLILSGTVESTS>A<TCQVRTSYLPEEILWGYEFTPAISLSASGK | 322 |
| KCNJ11 | PLYDLAPSDLHHHQDLEIIVILEGVVETTG>I<TTQARTSYLADEILWGQRFVPIVAEE-DGR | 325 |
| KCNJ12 | PLFGISRQDLE-TDDFEIVVILEGMVEATA>M<TTQARSSYLANEILWGHRFEPVLFEE-KNQ | 337 |
| KCNJ13 | PLATLLQHE-N-PSHFELVVFLSAMQEGTG>E<ICQRRTSYLPSEIMLHHCFASLLTRGSKGE | 310 |
| KCNJ14 | PLYELGRAELA-RADFELVVILEGMVEATA>M<TTQCRSSYLPGELLWGHRFEPVLFQR-GSQ | 341 |
| KCNJ15 | PLRDLTPQNLK-EKEFELVVLLNATVESTS>A<VCQSRTSYIPEEIYWGFEFVPVVSLSKNGK | 322 |
| KCNJ16 | PLYALDRKAVA-KDNFEILVTFIYTGDSTG>T<SHQSRSSYVPREILWGHRFNDVLEVK-RKY | 320 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M307I | c.921G>A | Inherited Arrhythmia | LQTS | rs199473658 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. J Hum Genet. 2007 52(3):280-3. 17211524 | ||
| p.M307V | c.919A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation. J Neurol Sci. 2015 352(1-2):105-6. doi: 10.1016/j.jns.2015.02.027. 25847018 | ||