Paralogue Annotation for KCNJ2 residue 80

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 80
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 80

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11K67NHyperinsulinismMedium9 12364426, 12627323
KCNJ1K76EBartter syndromeMedium9 23782368

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.



KCNJ2GHCNVQFINVGEKGQ--RYLADIFTTCVDI>R<WRWMLVIFCLAFVLSWLFFGCVFWLIALLH110
KCNJ1GRCNIEFGNVEA-QSRFIFFVDIWTTVLDL>K<WRYKMTIFITAFLGSWFFFGLLWYAVAYIH106
KCNJ3GRCNVQHGNLGSETS--RYLSDLFTTLVDL>K<WRWNLFIFILTYTVAWLFMASMWWVIAYTR109
KCNJ4GQCNVYFANLSNKSQ--RYMADIFTTCVDT>R<WRYMLMIFSAAFLVSWLFFGLLFWCIAFFH84
KCNJ5GKCNVHHGNVQ-ETY--RYLSDLFTTLVDL>K<WRFNLLVFTMVYTVTWLFFGFIWWLIAYIR115
KCNJ6GKCNVHHGNVR-ETY--RYLTDIFTTLVDL>K<WRFNLLIFVMVYTVTWLFFGMIWWLIAYIR118
KCNJ8GACNLAHKNIR-EQG--RFLQDIFTTLVDL>K<WRHTLVIFTMSFLCSWLLFAIMWWLVAFAH98
KCNJ9GRCNVQQGNVR-ETY--RYLTDLFTTLVDL>Q<WRLSLLFFVLAYALTWLFFGAIWWLIAYGR86
KCNJ10GRSNVRMEHIADKRF--LYLKDLWTTFIDM>Q<WRYKLLLFSATFAGTWFLFGVVWYLVAVAH93
KCNJ11GNCNVAHKNIR-EQG--RFLQDVFTTLVDL>K<WPHTLLIFTMSFLCSWLLFAMAWWLIAFAH97
KCNJ12GQCNIEFANMDEKSQ--RYLADMFTTCVDI>R<WRYMLLIFSLAFLASWLLFGIIFWVIAVAH109
KCNJ13GHSTLQMDGAQR-GL--AYLRDAWGILMDM>R<WRWMMLVFSASFVVHWLVFAVLWYVLAEMN82
KCNJ14GHCNVRFVNLGGQGA--RYLSDLFTTCVDV>R<WRWMCLLFSCSFLASWLLFGLAFWLIASLH115
KCNJ15GHSNVRIDKVDGIYL--LYLQDLWTTVIDM>K<WRYKLTLFAATFVMTWFLFGVIYYAIAFIH92
KCNJ16GSCNVYFKHIFGEWG--SYVVDIFTTLVDT>K<WRHMFVIFSLSYILSWLIFGSVFWLIAFHH99
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R80Cc.238C>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Phenotype variability in patients carrying KCNJ2 mutations. Circ Cardiovasc Genet. 2012 5(3):344-53. doi: 10.1161/CIRCGENETICS.111.962316. 22589293