| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ10 | R65P | Epilepsy, ataxia, sensorineural deafness and tubul | High | 9 | 19420365, 20651251, 20678478, 20807765, 21088294, 23924083 |
| KCNJ10 | R65C | Epilepsy, ataxia, sensorineural deafness and tubul | High | 9 | 21849804 |
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 | CNVQFINVGEKGQ--RYLADIFTTCVDIRW>R<WMLVIFCLAFVLSWLFFGCVFWLIALLHGD | 112 |
| KCNJ1 | CNIEFGNVEA-QSRFIFFVDIWTTVLDLKW>R<YKMTIFITAFLGSWFFFGLLWYAVAYIHKD | 108 |
| KCNJ3 | CNVQHGNLGSETS--RYLSDLFTTLVDLKW>R<WNLFIFILTYTVAWLFMASMWWVIAYTRGD | 111 |
| KCNJ4 | CNVYFANLSNKSQ--RYMADIFTTCVDTRW>R<YMLMIFSAAFLVSWLFFGLLFWCIAFFHGD | 86 |
| KCNJ5 | CNVHHGNVQ-ETY--RYLSDLFTTLVDLKW>R<FNLLVFTMVYTVTWLFFGFIWWLIAYIRGD | 117 |
| KCNJ6 | CNVHHGNVR-ETY--RYLTDIFTTLVDLKW>R<FNLLIFVMVYTVTWLFFGMIWWLIAYIRGD | 120 |
| KCNJ8 | CNLAHKNIR-EQG--RFLQDIFTTLVDLKW>R<HTLVIFTMSFLCSWLLFAIMWWLVAFAHGD | 100 |
| KCNJ9 | CNVQQGNVR-ETY--RYLTDLFTTLVDLQW>R<LSLLFFVLAYALTWLFFGAIWWLIAYGRGD | 88 |
| KCNJ10 | SNVRMEHIADKRF--LYLKDLWTTFIDMQW>R<YKLLLFSATFAGTWFLFGVVWYLVAVAHGD | 95 |
| KCNJ11 | CNVAHKNIR-EQG--RFLQDVFTTLVDLKW>P<HTLLIFTMSFLCSWLLFAMAWWLIAFAHGD | 99 |
| KCNJ12 | CNIEFANMDEKSQ--RYLADMFTTCVDIRW>R<YMLLIFSLAFLASWLLFGIIFWVIAVAHGD | 111 |
| KCNJ13 | STLQMDGAQR-GL--AYLRDAWGILMDMRW>R<WMMLVFSASFVVHWLVFAVLWYVLAEMNGD | 84 |
| KCNJ14 | CNVRFVNLGGQGA--RYLSDLFTTCVDVRW>R<WMCLLFSCSFLASWLLFGLAFWLIASLHGD | 117 |
| KCNJ15 | SNVRIDKVDGIYL--LYLQDLWTTVIDMKW>R<YKLTLFAATFVMTWFLFGVIYYAIAFIHGD | 94 |
| KCNJ16 | CNVYFKHIFGEWG--SYVVDIFTTLVDTKW>R<HMFVIFSLSYILSWLIFGSVFWLIAFHHGD | 101 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R82Q | c.245G>A | Inherited Arrhythmia | LQTS | rs199473653 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063 | ||
| 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 | |||
| p.R82W | c.244C>T | Inherited Arrhythmia | LQTS | rs199473373 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm. 2006 3(7):800-5. 16818210 | |||
| 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 | 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 | |||