Paralogue Annotation for KCNJ2 residue 72

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 72
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 72

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11V59MDiabetes, permanent neonatalMedium9 15115830, 16731837, 19065048, 19686306, 20595581, 22252471, 23462667, 23626843, 24855163, 21682153, 22145471, 24582665, 26839896
KCNJ11V59ADiabetes, neonatalMedium9 19139106, 23382304
KCNJ11V59GDiabetes, permanent neonatalMedium9 15115830, 16731837

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.



KCNJ2RSRFVKKDGHCNVQFINVGEKGQ--RYLAD>I<FTTCVDIRWRWMLVIFCLAFVLSWLFFGCV102
KCNJ1RARLVSKDGRCNIEFGNVEA-QSRFIFFVD>I<WTTVLDLKWRYKMTIFITAFLGSWFFFGLL98
KCNJ3RQRFVDKNGRCNVQHGNLGSETS--RYLSD>L<FTTLVDLKWRWNLFIFILTYTVAWLFMASM101
KCNJ4RNRFVKKNGQCNVYFANLSNKSQ--RYMAD>I<FTTCVDTRWRYMLMIFSAAFLVSWLFFGLL76
KCNJ5RQRYMEKSGKCNVHHGNVQ-ETY--RYLSD>L<FTTLVDLKWRFNLLVFTMVYTVTWLFFGFI107
KCNJ6IQRYVRKDGKCNVHHGNVR-ETY--RYLTD>I<FTTLVDLKWRFNLLIFVMVYTVTWLFFGMI110
KCNJ8KARFIAKSGACNLAHKNIR-EQG--RFLQD>I<FTTLVDLKWRHTLVIFTMSFLCSWLLFAIM90
KCNJ9RQRYVEKDGRCNVQQGNVR-ETY--RYLTD>L<FTTLVDLQWRLSLLFFVLAYALTWLFFGAI78
KCNJ10RRRVLTKDGRSNVRMEHIADKRF--LYLKD>L<WTTFIDMQWRYKLLLFSATFAGTWFLFGVV85
KCNJ11RARFVSKKGNCNVAHKNIR-EQG--RFLQD>V<FTTLVDLKWPHTLLIFTMSFLCSWLLFAMA89
KCNJ12RNRFVKKNGQCNIEFANMDEKSQ--RYLAD>M<FTTCVDIRWRYMLLIFSLAFLASWLLFGII101
KCNJ13YRRMVTKDGHSTLQMDGAQR-GL--AYLRD>A<WGILMDMRWRWMMLVFSASFVVHWLVFAVL74
KCNJ14RGRFVKKDGHCNVRFVNLGGQGA--RYLSD>L<FTTCVDVRWRWMCLLFSCSFLASWLLFGLA107
KCNJ15RPRVMSKSGHSNVRIDKVDGIYL--LYLQD>L<WTTVIDMKWRYKLTLFAATFVMTWFLFGVI84
KCNJ16RRRLLHKDGSCNVYFKHIFGEWG--SYVVD>I<FTTLVDTKWRHMFVIFSLSYILSWLIFGSV91
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I72Mc.216C>G Putative BenignSIFT:
Polyphen: