Paralogue Annotation for KCNJ2 residue 64

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 64
Reference Amino Acid: K - Lysine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 64

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11E51ADiabetes, neonatalLow3 20642364

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.



KCNJ2KSKVHTRQQCRSRFVKKDGHCNVQFINVGE>K<GQ--RYLADIFTTCVDIRWRWMLVIFCLAF92
KCNJ1-R-FFGHSRQRARLVSKDGRCNIEFGNVEA>-<QSRFIFFVDIWTTVLDLKWRYKMTIFITAF88
KCNJ3QQQLV-PKKKRQRFVDKNGRCNVQHGNLGS>E<TS--RYLSDLFTTLVDLKWRWNLFIFILTY91
KCNJ4QAHVP-RRKRRNRFVKKNGQCNVYFANLSN>K<SQ--RYMADIFTTCVDTRWRYMLMIFSAAF66
KCNJ5TRLLAEGKKPRQRYMEKSGKCNVHHGNVQ->E<TY--RYLSDLFTTLVDLKWRFNLLVFTMVY97
KCNJ6DR----TKRKIQRYVRKDGKCNVHHGNVR->E<TY--RYLTDIFTTLVDLKWRFNLLIFVMVY100
KCNJ8KP-RIRDRLPKARFIAKSGACNLAHKNIR->E<QG--RFLQDIFTTLVDLKWRHTLVIFTMSF80
KCNJ9QE-EPPRRRGRQRYVEKDGRCNVQQGNVR->E<TY--RYLTDLFTTLVDLQWRLSLLFFVLAY68
KCNJ10-P-LMGPGIRRRRVLTKDGRSNVRMEHIAD>K<RF--LYLKDLWTTFIDMQWRYKLLLFSATF75
KCNJ11KP-RYRARQRRARFVSKKGNCNVAHKNIR->E<QG--RFLQDVFTTLVDLKWPHTLLIFTMSF79
KCNJ12K--VHTRRRCRNRFVKKNGQCNIEFANMDE>K<SQ--RYLADMFTTCVDIRWRYMLLIFSLAF91
KCNJ13-------SQRYRRMVTKDGHSTLQMDGAQR>-<GL--AYLRDAWGILMDMRWRWMMLVFSASF64
KCNJ14----P-VGRRRGRFVKKDGHCNVRFVNLGG>Q<GA--RYLSDLFTTCVDVRWRWMCLLFSCSF97
KCNJ15-A-GAGLKANRPRVMSKSGHSNVRIDKVDG>I<YL--LYLQDLWTTVIDMKWRYKLTLFAATF74
KCNJ16H-IIAEKRRARRRLLHKDGSCNVYFKHIFG>E<WG--SYVVDIFTTLVDTKWRHMFVIFSLSY81
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 64 for KCNJ2.