Paralogue Annotation for KCNJ2 residue 61

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 61
Reference Amino Acid: V - Valine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 61

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11I49NHyperinsulinismMedium9 26740944

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.



KCNJ2GNGKSKVHTRQQCRSRFVKKDGHCNVQFIN>V<GEKGQ--RYLADIFTTCVDIRWRWMLVIFC89
KCNJ1VVT-R-FFGHSRQRARLVSKDGRCNIEFGN>V<EA-QSRFIFFVDIWTTVLDLKWRYKMTIFI85
KCNJ3D-PQQQLV-PKKKRQRFVDKNGRCNVQHGN>L<GSETS--RYLSDLFTTLVDLKWRWNLFIFI88
KCNJ4-NGQAHVP-RRKRRNRFVKKNGQCNVYFAN>L<SNKSQ--RYMADIFTTCVDTRWRYMLMIFS63
KCNJ5D-RTRLLAEGKKPRQRYMEKSGKCNVHHGN>V<Q-ETY--RYLSDLFTTLVDLKWRFNLLVFT94
KCNJ6S-RDR----TKRKIQRYVRKDGKCNVHHGN>V<R-ETY--RYLTDIFTTLVDLKWRFNLLIFV97
KCNJ8NLRKP-RIRDRLPKARFIAKSGACNLAHKN>I<R-EQG--RFLQDIFTTLVDLKWRHTLVIFT77
KCNJ9--GQE-EPPRRRGRQRYVEKDGRCNVQQGN>V<R-ETY--RYLTDLFTTLVDLQWRLSLLFFV65
KCNJ10--R-P-LMGPGIRRRRVLTKDGRSNVRMEH>I<ADKRF--LYLKDLWTTFIDMQWRYKLLLFS72
KCNJ11DPAKP-RYRARQRRARFVSKKGNCNVAHKN>I<R-EQG--RFLQDVFTTLVDLKWPHTLLIFT76
KCNJ12GNGK--VHTRRRCRNRFVKKNGQCNIEFAN>M<DEKSQ--RYLADMFTTCVDIRWRYMLLIFS88
KCNJ13L---------SQRYRRMVTKDGHSTLQMDG>A<QR-GL--AYLRDAWGILMDMRWRWMMLVFS61
KCNJ14VQS----P-VGRRRGRFVKKDGHCNVRFVN>L<GGQGA--RYLSDLFTTCVDVRWRWMCLLFS94
KCNJ15--T-A-GAGLKANRPRVMSKSGHSNVRIDK>V<DGIYL--LYLQDLWTTVIDMKWRYKLTLFA71
KCNJ16PPEH-IIAEKRRARRRLLHKDGSCNVYFKH>I<FGEWG--SYVVDIFTTLVDTKWRHMFVIFS78
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 61 for KCNJ2.