Paralogue Annotation for KCNJ2 residue 46

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 46
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 46

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11R34CDiabetes, neonatalHigh8 17446535
KCNJ11R34HHypoglycaemia, persistent hyperinsulinaemicHigh8 15807877, 24421282, 24686051
KCNJ5R52HHyperaldosteronism, type IIIHigh8 24420545, 24420545

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.



KCNJ2M--KLATMAVANGF-GNGKSKVHTRQQCRS>R<FVKKDGHCNVQFINVGEKGQ--RYLADIFT74
KCNJ1K--HLRK------W-VVT-R-FFGHSRQRA>R<LVSKDGRCNIEFGNVEA-QSRFIFFVDIWT70
KCNJ3---GLQPQG--PGQ-D-PQQQLV-PKKKRQ>R<FVDKNGRCNVQHGNLGSETS--RYLSDLFT73
KCNJ4----------------NGQAHVP-RRKRRN>R<FVKKNGQCNVYFANLSNKSQ--RYMADIFT48
KCNJ5IPKQARDYV--PIATD-RTRLLAEGKKPRQ>R<YMEKSGKCNVHHGNVQ-ETY--RYLSDLFT79
KCNJ6LPKQARDDL--PRHIS-RDR----TKRKIQ>R<YVRKDGKCNVHHGNVR-ETY--RYLTDIFT82
KCNJ8-------------E-NLRKP-RIRDRLPKA>R<FIAKSGACNLAHKNIR-EQG--RFLQDIFT62
KCNJ9-----------------GQE-EPPRRRGRQ>R<YVEKDGRCNVQQGNVR-ETY--RYLTDLFT50
KCNJ10-----------------R-P-LMGPGIRRR>R<VLTKDGRSNVRMEHIADKRF--LYLKDLWT57
KCNJ11-------------E-DPAKP-RYRARQRRA>R<FVSKKGNCNVAHKNIR-EQG--RFLQDVFT61
KCNJ12L--HLVTMSGANGF-GNGK--VHTRRRCRN>R<FVKKNGQCNIEFANMDEKSQ--RYLADMFT73
KCNJ13K--VIAP------L-L---------SQRYR>R<MVTKDGHSTLQMDGAQR-GL--AYLRDAWG46
KCNJ14P--GLCRNGWAPAP-VQS----P-VGRRRG>R<FVKKDGHCNVRFVNLGGQGA--RYLSDLFT79
KCNJ15-----------------T-A-GAGLKANRP>R<VMSKSGHSNVRIDKVDGIYL--LYLQDLWT56
KCNJ16P-----------GY-PPEH-IIAEKRRARR>R<LLHKDGSCNVYFKHIFGEWG--SYVVDIFT63
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 46 for KCNJ2.