| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ1 | T71M | Bartter syndrome | High | 9 | 12911542 |
| KCNJ11 | T62M | Diabetes, neonatal | High | 9 | 20642364 |
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 | FVKKDGHCNVQFINVGEKGQ--RYLADIFT>T<CVDIRWRWMLVIFCLAFVLSWLFFGCVFWL | 105 |
| KCNJ1 | LVSKDGRCNIEFGNVEA-QSRFIFFVDIWT>T<VLDLKWRYKMTIFITAFLGSWFFFGLLWYA | 101 |
| KCNJ3 | FVDKNGRCNVQHGNLGSETS--RYLSDLFT>T<LVDLKWRWNLFIFILTYTVAWLFMASMWWV | 104 |
| KCNJ4 | FVKKNGQCNVYFANLSNKSQ--RYMADIFT>T<CVDTRWRYMLMIFSAAFLVSWLFFGLLFWC | 79 |
| KCNJ5 | YMEKSGKCNVHHGNVQ-ETY--RYLSDLFT>T<LVDLKWRFNLLVFTMVYTVTWLFFGFIWWL | 110 |
| KCNJ6 | YVRKDGKCNVHHGNVR-ETY--RYLTDIFT>T<LVDLKWRFNLLIFVMVYTVTWLFFGMIWWL | 113 |
| KCNJ8 | FIAKSGACNLAHKNIR-EQG--RFLQDIFT>T<LVDLKWRHTLVIFTMSFLCSWLLFAIMWWL | 93 |
| KCNJ9 | YVEKDGRCNVQQGNVR-ETY--RYLTDLFT>T<LVDLQWRLSLLFFVLAYALTWLFFGAIWWL | 81 |
| KCNJ10 | VLTKDGRSNVRMEHIADKRF--LYLKDLWT>T<FIDMQWRYKLLLFSATFAGTWFLFGVVWYL | 88 |
| KCNJ11 | FVSKKGNCNVAHKNIR-EQG--RFLQDVFT>T<LVDLKWPHTLLIFTMSFLCSWLLFAMAWWL | 92 |
| KCNJ12 | FVKKNGQCNIEFANMDEKSQ--RYLADMFT>T<CVDIRWRYMLLIFSLAFLASWLLFGIIFWV | 104 |
| KCNJ13 | MVTKDGHSTLQMDGAQR-GL--AYLRDAWG>I<LMDMRWRWMMLVFSASFVVHWLVFAVLWYV | 77 |
| KCNJ14 | FVKKDGHCNVRFVNLGGQGA--RYLSDLFT>T<CVDVRWRWMCLLFSCSFLASWLLFGLAFWL | 110 |
| KCNJ15 | VMSKSGHSNVRIDKVDGIYL--LYLQDLWT>T<VIDMKWRYKLTLFAATFVMTWFLFGVIYYA | 87 |
| KCNJ16 | LLHKDGSCNVYFKHIFGEWG--SYVVDIFT>T<LVDTKWRHMFVIFSLSYILSWLIFGSVFWL | 94 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T75A | c.223A>G | Inherited Arrhythmia | LQTS | rs199473370 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome. J Mol Cell Cardiol. 2004 37(2):593-602. 15276028 | ||
| p.T75M | c.224C>T | Inherited Arrhythmia | LQTS | rs104894585 | 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 | T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity. J Mol Cell Cardiol. 2007 43(2):187-96. 17582433 | |||
| p.T75R | c.224C>G | Inherited Arrhythmia | LQTS | rs104894585 | 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 | Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. J Med Genet. 2006 43(8):653-9. 16571646 | |||