Paralogue Annotation for KCNJ2 residue 51

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 51
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 51

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11K39RDiabetes mellitus, neonatalMedium9 25781672

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.



KCNJ2ATMAVANGF-GNGKSKVHTRQQCRSRFVKK>D<GHCNVQFINVGEKGQ--RYLADIFTTCVDI79
KCNJ1RK------W-VVT-R-FFGHSRQRARLVSK>D<GRCNIEFGNVEA-QSRFIFFVDIWTTVLDL75
KCNJ3QPQG--PGQ-D-PQQQLV-PKKKRQRFVDK>N<GRCNVQHGNLGSETS--RYLSDLFTTLVDL78
KCNJ4-----------NGQAHVP-RRKRRNRFVKK>N<GQCNVYFANLSNKSQ--RYMADIFTTCVDT53
KCNJ5RDYV--PIATD-RTRLLAEGKKPRQRYMEK>S<GKCNVHHGNVQ-ETY--RYLSDLFTTLVDL84
KCNJ6RDDL--PRHIS-RDR----TKRKIQRYVRK>D<GKCNVHHGNVR-ETY--RYLTDIFTTLVDL87
KCNJ8--------E-NLRKP-RIRDRLPKARFIAK>S<GACNLAHKNIR-EQG--RFLQDIFTTLVDL67
KCNJ9------------GQE-EPPRRRGRQRYVEK>D<GRCNVQQGNVR-ETY--RYLTDLFTTLVDL55
KCNJ10------------R-P-LMGPGIRRRRVLTK>D<GRSNVRMEHIADKRF--LYLKDLWTTFIDM62
KCNJ11--------E-DPAKP-RYRARQRRARFVSK>K<GNCNVAHKNIR-EQG--RFLQDVFTTLVDL66
KCNJ12VTMSGANGF-GNGK--VHTRRRCRNRFVKK>N<GQCNIEFANMDEKSQ--RYLADMFTTCVDI78
KCNJ13AP------L-L---------SQRYRRMVTK>D<GHSTLQMDGAQR-GL--AYLRDAWGILMDM51
KCNJ14CRNGWAPAP-VQS----P-VGRRRGRFVKK>D<GHCNVRFVNLGGQGA--RYLSDLFTTCVDV84
KCNJ15------------T-A-GAGLKANRPRVMSK>S<GHSNVRIDKVDGIYL--LYLQDLWTTVIDM61
KCNJ16-------GY-PPEH-IIAEKRRARRRLLHK>D<GSCNVYFKHIFGEWG--SYVVDIFTTLVDT68
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 51 for KCNJ2.