| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ1 | R311W | Bartter syndrome | High | 9 | 10611379, 10611379, 21865213 |
| KCNJ1 | R311Q | Bartter syndrome | High | 9 | 10611379 |
| KCNJ10 | R297C | SeSAME syndrome | High | 9 | 19289823, 20678478, 20807765, 21088294, 21849804, 23924083 |
| KCNJ11 | R301G | Hyperinsulinism | High | 9 | 18250167 |
| KCNJ11 | R301C | Hyperinsulinism | High | 9 | 18250167, 11585851 |
| KCNJ11 | R301H | Hyperinsulinism | High | 9 | 14715863, 18250167 |
| KCNJ11 | R301P | Hyperinsulinism | High | 9 | 18250167, 21115269 |
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 | SKQDID-NADFEIVVILEGMVEATAMTTQC>R<SSYLANEILWGHRYEPVLFEE-KHYYKVDY | 341 |
| KCNJ1 | AAETLL-QQDFELVVFLDGTVESTSATCQV>R<TSYVPEEVLWGYRFAPIVSKTKEGKYRVDF | 341 |
| KCNJ3 | SQRSMQ-TEQFEIVVILEGIVETTGMTCQA>R<TSYTEDEVLWGHRFFPVISLE-EGFFKVDY | 342 |
| KCNJ4 | GKEELE-SEDFEIVVILEGMVEATAMTTQA>R<SSYLASEILWGHRFEPVVFEE-KSHYKVDY | 333 |
| KCNJ5 | SQAQLH-QEEFEVVVILEGMVEATGMTCQA>R<SSYMDTEVLWGHRFTPVLTLE-KGFYEVDY | 348 |
| KCNJ6 | SKAQLP-KEELEIVVILEGMVEATGMTCQA>R<SSYITSEILWGYRFTPVLTLE-DGFYEVDY | 351 |
| KCNJ8 | SATDLA-NQDLEVIVILEGVVETTGITTQA>R<TSYIAEEIQWGHRFVSIVTEE-EGVYSVDY | 339 |
| KCNJ9 | SRRALE-RDDFEIVVILEGMVEATGMTCQA>R<SSYLVDEVLWGHRFTSVLTLE-DGFYEVDY | 319 |
| KCNJ10 | PLRSG--EGDFELVLILSGTVESTSATCQV>R<TSYLPEEILWGYEFTPAISLSASGKYIADF | 327 |
| KCNJ11 | APSDLHHHQDLEIIVILEGVVETTGITTQA>R<TSYLADEILWGQRFVPIVAEE-DGRYSVDY | 330 |
| KCNJ12 | SRQDLE-TDDFEIVVILEGMVEATAMTTQA>R<SSYLANEILWGHRFEPVLFEE-KNQYKIDY | 342 |
| KCNJ13 | LQHE-N-PSHFELVVFLSAMQEGTGEICQR>R<TSYLPSEIMLHHCFASLLTRGSKGEYQIKM | 315 |
| KCNJ14 | GRAELA-RADFELVVILEGMVEATAMTTQC>R<SSYLPGELLWGHRFEPVLFQR-GSQYEVDY | 346 |
| KCNJ15 | TPQNLK-EKEFELVVLLNATVESTSAVCQS>R<TSYIPEEIYWGFEFVPVVSLSKNGKYVADF | 327 |
| KCNJ16 | DRKAVA-KDNFEILVTFIYTGDSTGTSHQS>R<SSYVPREILWGHRFNDVLEVK-RKYYKVNC | 325 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R312C | c.934C>T | Inherited Arrhythmia | LQTS | rs199473389 | 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 | Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve. 2012 46(2):193-203. doi: 10.1002/mus.23293. 22806368 | |||
| Inherited Arrhythmia | LQTS | A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide. J Neurol Sci. 2014 347(1-2):385-6. doi: 10.1016/j.jns.2014.09.040. 25284084 | |||
| p.R312H | c.935G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365 | ||