Paralogue Annotation for KCNJ2 residue 60

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 60
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 60

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11N48DDiabetes, transient neonatalHigh9 17021801
KCNJ11N48IDiabetes, permanent neonatalHigh9 21796147

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-GNGKSKVHTRQQCRSRFVKKDGHCNVQFI>N<VGEKGQ--RYLADIFTTCVDIRWRWMLVIF88
KCNJ1-VVT-R-FFGHSRQRARLVSKDGRCNIEFG>N<VEA-QSRFIFFVDIWTTVLDLKWRYKMTIF84
KCNJ3-D-PQQQLV-PKKKRQRFVDKNGRCNVQHG>N<LGSETS--RYLSDLFTTLVDLKWRWNLFIF87
KCNJ4--NGQAHVP-RRKRRNRFVKKNGQCNVYFA>N<LSNKSQ--RYMADIFTTCVDTRWRYMLMIF62
KCNJ5TD-RTRLLAEGKKPRQRYMEKSGKCNVHHG>N<VQ-ETY--RYLSDLFTTLVDLKWRFNLLVF93
KCNJ6IS-RDR----TKRKIQRYVRKDGKCNVHHG>N<VR-ETY--RYLTDIFTTLVDLKWRFNLLIF96
KCNJ8-NLRKP-RIRDRLPKARFIAKSGACNLAHK>N<IR-EQG--RFLQDIFTTLVDLKWRHTLVIF76
KCNJ9---GQE-EPPRRRGRQRYVEKDGRCNVQQG>N<VR-ETY--RYLTDLFTTLVDLQWRLSLLFF64
KCNJ10---R-P-LMGPGIRRRRVLTKDGRSNVRME>H<IADKRF--LYLKDLWTTFIDMQWRYKLLLF71
KCNJ11-DPAKP-RYRARQRRARFVSKKGNCNVAHK>N<IR-EQG--RFLQDVFTTLVDLKWPHTLLIF75
KCNJ12-GNGK--VHTRRRCRNRFVKKNGQCNIEFA>N<MDEKSQ--RYLADMFTTCVDIRWRYMLLIF87
KCNJ13-L---------SQRYRRMVTKDGHSTLQMD>G<AQR-GL--AYLRDAWGILMDMRWRWMMLVF60
KCNJ14-VQS----P-VGRRRGRFVKKDGHCNVRFV>N<LGGQGA--RYLSDLFTTCVDVRWRWMCLLF93
KCNJ15---T-A-GAGLKANRPRVMSKSGHSNVRID>K<VDGIYL--LYLQDLWTTVIDMKWRYKLTLF70
KCNJ16-PPEH-IIAEKRRARRRLLHKDGSCNVYFK>H<IFGEWG--SYVVDIFTTLVDTKWRHMFVIF77
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 60 for KCNJ2.