Paralogue Annotation for KCNJ2 residue 93

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 93
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 93

No paralogue variants have been mapped to residue 93 for KCNJ2.



KCNJ2GQ--RYLADIFTTCVDIRWRWMLVIFCLAF>V<LSWLFFGCVFWLIALLHGDLDAS-------116
KCNJ1QSRFIFFVDIWTTVLDLKWRYKMTIFITAF>L<GSWFFFGLLWYAVAYIHKDLPEF--HP---114
KCNJ3TS--RYLSDLFTTLVDLKWRWNLFIFILTY>T<VAWLFMASMWWVIAYTRGDLNKA--HV---117
KCNJ4SQ--RYMADIFTTCVDTRWRYMLMIFSAAF>L<VSWLFFGLLFWCIAFFHGDLEAS--PGVPA95
KCNJ5TY--RYLSDLFTTLVDLKWRFNLLVFTMVY>T<VTWLFFGFIWWLIAYIRGDLDHV--GD---123
KCNJ6TY--RYLTDIFTTLVDLKWRFNLLIFVMVY>T<VTWLFFGMIWWLIAYIRGDMDHI--ED---126
KCNJ8QG--RFLQDIFTTLVDLKWRHTLVIFTMSF>L<CSWLLFAIMWWLVAFAHGDIYAY--MEKS-108
KCNJ9TY--RYLTDLFTTLVDLQWRLSLLFFVLAY>A<LTWLFFGAIWWLIAYGRGDLEHL--ED---94
KCNJ10RF--LYLKDLWTTFIDMQWRYKLLLFSATF>A<GTWFLFGVVWYLVAVAHGDLLEL--DP---101
KCNJ11QG--RFLQDVFTTLVDLKWPHTLLIFTMSF>L<CSWLLFAMAWWLIAFAHGDLAP----S-E-104
KCNJ12SQ--RYLADMFTTCVDIRWRYMLLIFSLAF>L<ASWLLFGIIFWVIAVAHGDLEPA--EG---117
KCNJ13GL--AYLRDAWGILMDMRWRWMMLVFSASF>V<VHWLVFAVLWYVLAEMNGDLELDHDAP---92
KCNJ14GA--RYLSDLFTTCVDVRWRWMCLLFSCSF>L<ASWLLFGLAFWLIASLHGDLAAP--P----122
KCNJ15YL--LYLQDLWTTVIDMKWRYKLTLFAATF>V<MTWFLFGVIYYAIAFIHGDLEPG--EP---100
KCNJ16WG--SYVVDIFTTLVDTKWRHMFVIFSLSY>I<LSWLIFGSVFWLIAFHHGDLLND--P----106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V93Ic.277G>A Inherited ArrhythmiaLQTS,AFSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaAF A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun. 2005 332(4):1012-9. 15922306
Inherited ArrhythmiaAF 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 ArrhythmiaLQTS 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