Paralogue Annotation for KCNJ2 residue 68

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 68
Reference Amino Acid: Y - Tyrosine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 68

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11F55LHyperinsulinismMedium9 16332676

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.



KCNJ2RQQCRSRFVKKDGHCNVQFINVGEKGQ--R>Y<LADIFTTCVDIRWRWMLVIFCLAFVLSWLF98
KCNJ1HSRQRARLVSKDGRCNIEFGNVEA-QSRFI>F<FVDIWTTVLDLKWRYKMTIFITAFLGSWFF94
KCNJ3PKKKRQRFVDKNGRCNVQHGNLGSETS--R>Y<LSDLFTTLVDLKWRWNLFIFILTYTVAWLF97
KCNJ4RRKRRNRFVKKNGQCNVYFANLSNKSQ--R>Y<MADIFTTCVDTRWRYMLMIFSAAFLVSWLF72
KCNJ5GKKPRQRYMEKSGKCNVHHGNVQ-ETY--R>Y<LSDLFTTLVDLKWRFNLLVFTMVYTVTWLF103
KCNJ6TKRKIQRYVRKDGKCNVHHGNVR-ETY--R>Y<LTDIFTTLVDLKWRFNLLIFVMVYTVTWLF106
KCNJ8DRLPKARFIAKSGACNLAHKNIR-EQG--R>F<LQDIFTTLVDLKWRHTLVIFTMSFLCSWLL86
KCNJ9RRRGRQRYVEKDGRCNVQQGNVR-ETY--R>Y<LTDLFTTLVDLQWRLSLLFFVLAYALTWLF74
KCNJ10PGIRRRRVLTKDGRSNVRMEHIADKRF--L>Y<LKDLWTTFIDMQWRYKLLLFSATFAGTWFL81
KCNJ11ARQRRARFVSKKGNCNVAHKNIR-EQG--R>F<LQDVFTTLVDLKWPHTLLIFTMSFLCSWLL85
KCNJ12RRRCRNRFVKKNGQCNIEFANMDEKSQ--R>Y<LADMFTTCVDIRWRYMLLIFSLAFLASWLL97
KCNJ13-SQRYRRMVTKDGHSTLQMDGAQR-GL--A>Y<LRDAWGILMDMRWRWMMLVFSASFVVHWLV70
KCNJ14VGRRRGRFVKKDGHCNVRFVNLGGQGA--R>Y<LSDLFTTCVDVRWRWMCLLFSCSFLASWLL103
KCNJ15LKANRPRVMSKSGHSNVRIDKVDGIYL--L>Y<LQDLWTTVIDMKWRYKLTLFAATFVMTWFL80
KCNJ16KRRARRRLLHKDGSCNVYFKHIFGEWG--S>Y<VVDIFTTLVDTKWRHMFVIFSLSYILSWLI87
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y68Dc.202T>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063
Inherited ArrhythmiaLQTS Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome. Cardiovasc Res. 2007 75(4):748-57. 17568571
Inherited ArrhythmiaLQTS Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve. 2012 46(2):193-203. doi: 10.1002/mus.23293. 22806368