| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ11 | R54H | Hyperinsulinism | High | 8 | 23345197 |
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 | TRQQCRSRFVKKDGHCNVQFINVGEKGQ-->R<YLADIFTTCVDIRWRWMLVIFCLAFVLSWL | 97 |
| KCNJ1 | GHSRQRARLVSKDGRCNIEFGNVEA-QSRF>I<FFVDIWTTVLDLKWRYKMTIFITAFLGSWF | 93 |
| KCNJ3 | -PKKKRQRFVDKNGRCNVQHGNLGSETS-->R<YLSDLFTTLVDLKWRWNLFIFILTYTVAWL | 96 |
| KCNJ4 | -RRKRRNRFVKKNGQCNVYFANLSNKSQ-->R<YMADIFTTCVDTRWRYMLMIFSAAFLVSWL | 71 |
| KCNJ5 | EGKKPRQRYMEKSGKCNVHHGNVQ-ETY-->R<YLSDLFTTLVDLKWRFNLLVFTMVYTVTWL | 102 |
| KCNJ6 | -TKRKIQRYVRKDGKCNVHHGNVR-ETY-->R<YLTDIFTTLVDLKWRFNLLIFVMVYTVTWL | 105 |
| KCNJ8 | RDRLPKARFIAKSGACNLAHKNIR-EQG-->R<FLQDIFTTLVDLKWRHTLVIFTMSFLCSWL | 85 |
| KCNJ9 | PRRRGRQRYVEKDGRCNVQQGNVR-ETY-->R<YLTDLFTTLVDLQWRLSLLFFVLAYALTWL | 73 |
| KCNJ10 | GPGIRRRRVLTKDGRSNVRMEHIADKRF-->L<YLKDLWTTFIDMQWRYKLLLFSATFAGTWF | 80 |
| KCNJ11 | RARQRRARFVSKKGNCNVAHKNIR-EQG-->R<FLQDVFTTLVDLKWPHTLLIFTMSFLCSWL | 84 |
| KCNJ12 | TRRRCRNRFVKKNGQCNIEFANMDEKSQ-->R<YLADMFTTCVDIRWRYMLLIFSLAFLASWL | 96 |
| KCNJ13 | --SQRYRRMVTKDGHSTLQMDGAQR-GL-->A<YLRDAWGILMDMRWRWMMLVFSASFVVHWL | 69 |
| KCNJ14 | -VGRRRGRFVKKDGHCNVRFVNLGGQGA-->R<YLSDLFTTCVDVRWRWMCLLFSCSFLASWL | 102 |
| KCNJ15 | GLKANRPRVMSKSGHSNVRIDKVDGIYL-->L<YLQDLWTTVIDMKWRYKLTLFAATFVMTWF | 79 |
| KCNJ16 | EKRRARRRLLHKDGSCNVYFKHIFGEWG-->S<YVVDIFTTLVDTKWRHMFVIFSLSYILSWL | 86 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R67Q | c.200G>A | Inherited Arrhythmia | LQTS | rs199473368 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | 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 | |||
| Inherited Arrhythmia | LQTS | KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia. Heart Rhythm. 2014 11(5):885-94. doi: 10.1016/j.hrthm.2014.02.015. 24561538 | |||
| p.R67W | c.199C>T | Inherited Arrhythmia | LQTS,CPVT | rs104894580 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet. 2002 71(3):663-8. 12148092 | ||
| 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 | CPVT | Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm. 2004 1(2):235-41. 15851159 | |||
| Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063 | |||
| 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 | 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 | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | |||
| 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 | |||
| Unknown | Gender differences in arrhythmias. Clin Cardiol. 2002 25(2):49-56. 11841151 | ||||