Paralogue Annotation for KCNJ2 residue 47

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 47
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 47

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11F35VDiabetes, permanent neonatalHigh9 15448106, 16731836
KCNJ11F35LDiabetes, permanent neonatalHigh9 15448107, 16731836

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--KLATMAVANGF-GNGKSKVHTRQQCRSR>F<VKKDGHCNVQFINVGEKGQ--RYLADIFTT75
KCNJ1--HLRK------W-VVT-R-FFGHSRQRAR>L<VSKDGRCNIEFGNVEA-QSRFIFFVDIWTT71
KCNJ3--GLQPQG--PGQ-D-PQQQLV-PKKKRQR>F<VDKNGRCNVQHGNLGSETS--RYLSDLFTT74
KCNJ4---------------NGQAHVP-RRKRRNR>F<VKKNGQCNVYFANLSNKSQ--RYMADIFTT49
KCNJ5PKQARDYV--PIATD-RTRLLAEGKKPRQR>Y<MEKSGKCNVHHGNVQ-ETY--RYLSDLFTT80
KCNJ6PKQARDDL--PRHIS-RDR----TKRKIQR>Y<VRKDGKCNVHHGNVR-ETY--RYLTDIFTT83
KCNJ8------------E-NLRKP-RIRDRLPKAR>F<IAKSGACNLAHKNIR-EQG--RFLQDIFTT63
KCNJ9----------------GQE-EPPRRRGRQR>Y<VEKDGRCNVQQGNVR-ETY--RYLTDLFTT51
KCNJ10----------------R-P-LMGPGIRRRR>V<LTKDGRSNVRMEHIADKRF--LYLKDLWTT58
KCNJ11------------E-DPAKP-RYRARQRRAR>F<VSKKGNCNVAHKNIR-EQG--RFLQDVFTT62
KCNJ12--HLVTMSGANGF-GNGK--VHTRRRCRNR>F<VKKNGQCNIEFANMDEKSQ--RYLADMFTT74
KCNJ13--VIAP------L-L---------SQRYRR>M<VTKDGHSTLQMDGAQR-GL--AYLRDAWGI47
KCNJ14--GLCRNGWAPAP-VQS----P-VGRRRGR>F<VKKDGHCNVRFVNLGGQGA--RYLSDLFTT80
KCNJ15----------------T-A-GAGLKANRPR>V<MSKSGHSNVRIDKVDGIYL--LYLQDLWTT57
KCNJ16-----------GY-PPEH-IIAEKRRARRR>L<LHKDGSCNVYFKHIFGEWG--SYVVDIFTT64
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 47 for KCNJ2.