Paralogue Annotation for KCNJ2 residue 58

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 58
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 58

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1F53CBartter syndromeHigh9 19096086
KCNJ11H46LDiabetes, permanent neonatalMedium9 17475937, 23462667
KCNJ11H46YDiabetes, permanent neonatalMedium9 16609879, 17021801
KCNJ11H46RDiabetes, type 1BMedium9 22957706

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.



KCNJ2GF-GNGKSKVHTRQQCRSRFVKKDGHCNVQ>F<INVGEKGQ--RYLADIFTTCVDIRWRWMLV86
KCNJ1-W-VVT-R-FFGHSRQRARLVSKDGRCNIE>F<GNVEA-QSRFIFFVDIWTTVLDLKWRYKMT82
KCNJ3GQ-D-PQQQLV-PKKKRQRFVDKNGRCNVQ>H<GNLGSETS--RYLSDLFTTLVDLKWRWNLF85
KCNJ4----NGQAHVP-RRKRRNRFVKKNGQCNVY>F<ANLSNKSQ--RYMADIFTTCVDTRWRYMLM60
KCNJ5IATD-RTRLLAEGKKPRQRYMEKSGKCNVH>H<GNVQ-ETY--RYLSDLFTTLVDLKWRFNLL91
KCNJ6RHIS-RDR----TKRKIQRYVRKDGKCNVH>H<GNVR-ETY--RYLTDIFTTLVDLKWRFNLL94
KCNJ8-E-NLRKP-RIRDRLPKARFIAKSGACNLA>H<KNIR-EQG--RFLQDIFTTLVDLKWRHTLV74
KCNJ9-----GQE-EPPRRRGRQRYVEKDGRCNVQ>Q<GNVR-ETY--RYLTDLFTTLVDLQWRLSLL62
KCNJ10-----R-P-LMGPGIRRRRVLTKDGRSNVR>M<EHIADKRF--LYLKDLWTTFIDMQWRYKLL69
KCNJ11-E-DPAKP-RYRARQRRARFVSKKGNCNVA>H<KNIR-EQG--RFLQDVFTTLVDLKWPHTLL73
KCNJ12GF-GNGK--VHTRRRCRNRFVKKNGQCNIE>F<ANMDEKSQ--RYLADMFTTCVDIRWRYMLL85
KCNJ13-L-L---------SQRYRRMVTKDGHSTLQ>M<DGAQR-GL--AYLRDAWGILMDMRWRWMML58
KCNJ14AP-VQS----P-VGRRRGRFVKKDGHCNVR>F<VNLGGQGA--RYLSDLFTTCVDVRWRWMCL91
KCNJ15-----T-A-GAGLKANRPRVMSKSGHSNVR>I<DKVDGIYL--LYLQDLWTTVIDMKWRYKLT68
KCNJ16GY-PPEH-IIAEKRRARRRLLHKDGSCNVY>F<KHIFGEWG--SYVVDIFTTLVDTKWRHMFV75
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 58 for KCNJ2.