No paralogue variants have been mapped to residue 93 for KCNJ2.
KCNJ2 | GQ--RYLADIFTTCVDIRWRWMLVIFCLAF>V<LSWLFFGCVFWLIALLHGDLDAS------- | 116 |
KCNJ1 | QSRFIFFVDIWTTVLDLKWRYKMTIFITAF>L<GSWFFFGLLWYAVAYIHKDLPEF--HP--- | 114 |
KCNJ3 | TS--RYLSDLFTTLVDLKWRWNLFIFILTY>T<VAWLFMASMWWVIAYTRGDLNKA--HV--- | 117 |
KCNJ4 | SQ--RYMADIFTTCVDTRWRYMLMIFSAAF>L<VSWLFFGLLFWCIAFFHGDLEAS--PGVPA | 95 |
KCNJ5 | TY--RYLSDLFTTLVDLKWRFNLLVFTMVY>T<VTWLFFGFIWWLIAYIRGDLDHV--GD--- | 123 |
KCNJ6 | TY--RYLTDIFTTLVDLKWRFNLLIFVMVY>T<VTWLFFGMIWWLIAYIRGDMDHI--ED--- | 126 |
KCNJ8 | QG--RFLQDIFTTLVDLKWRHTLVIFTMSF>L<CSWLLFAIMWWLVAFAHGDIYAY--MEKS- | 108 |
KCNJ9 | TY--RYLTDLFTTLVDLQWRLSLLFFVLAY>A<LTWLFFGAIWWLIAYGRGDLEHL--ED--- | 94 |
KCNJ10 | RF--LYLKDLWTTFIDMQWRYKLLLFSATF>A<GTWFLFGVVWYLVAVAHGDLLEL--DP--- | 101 |
KCNJ11 | QG--RFLQDVFTTLVDLKWPHTLLIFTMSF>L<CSWLLFAMAWWLIAFAHGDLAP----S-E- | 104 |
KCNJ12 | SQ--RYLADMFTTCVDIRWRYMLLIFSLAF>L<ASWLLFGIIFWVIAVAHGDLEPA--EG--- | 117 |
KCNJ13 | GL--AYLRDAWGILMDMRWRWMMLVFSASF>V<VHWLVFAVLWYVLAEMNGDLELDHDAP--- | 92 |
KCNJ14 | GA--RYLSDLFTTCVDVRWRWMCLLFSCSF>L<ASWLLFGLAFWLIASLHGDLAAP--P---- | 122 |
KCNJ15 | YL--LYLQDLWTTVIDMKWRYKLTLFAATF>V<MTWFLFGVIYYAIAFIHGDLEPG--EP--- | 100 |
KCNJ16 | WG--SYVVDIFTTLVDTKWRHMFVIFSLSY>I<LSWLIFGSVFWLIAFHHGDLLND--P---- | 106 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V93I | c.277G>A | Inherited Arrhythmia | LQTS,AF | rs147750704 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | AF | A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun. 2005 332(4):1012-9. 15922306 | ||
Inherited Arrhythmia | AF | Atrial proarrhythmia due to increased inward rectifier current (I(K1)) arising from KCNJ2 mutation--a simulation study. Prog Biophys Mol Biol. 2008 98(2-3):186-97. 19041665 | |||
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 | |||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 |