Paralogue Annotation for KCNJ2 residue 378

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 378
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 378

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11G366WDiabetes, type 1BLow2 24698822

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.



KCNJ2ARDLAEK----KYILSNA-----N-SFCYE>N<E----VALTSKEEDDSENGVPE------ST398
KCNJ1MCLYNEKDVR-------------------->-<------ARMK--RG-YDN------------375
KCNJ3VKEQEEMLLMSSPLIAPA-ITNSKERHNSV>E<C----LDGLDDITTKLPSKLQK------IT407
KCNJ4ARELQES----KITVLPAPPPPPS-AFCYE>N<E----LALMSQEEEEMEEEAAAAAAVAAGL401
KCNJ5AKELAEMKREGRLLQYLP-SPPLLGGCAEA>G<L----DAEA-E-------------------399
KCNJ6AKELAELASRAELPLSWS-VSSKLNQHAEL>E<T----EEEEKN-------------------403
KCNJ8ARELDEKPSILIQTLQKSELS-H------Q>N<S----LRKRNSMRRNNSMRRNN------SI398
KCNJ9ARELAEAAARLDAHLYWS-IPSRLDEKVEE>E<G----AGEGAG-------------------371
KCNJ10VRYGDPEKLK-------------------->-<-----LEESL--R---EQ------------364
KCNJ11ARQLDEDHSLLEALTLAS----A------R>G<P----LRKRS--------------------372
KCNJ12AKDLVEN----KFLLPSA-----N-SFCYE>N<E----LAFLSRDEEDEADGDQD------GR399
KCNJ13-KSP---NRT-------------------->-<------DLDIHINGQSID------------349
KCNJ14AKELDERAEQASHSLKSSFPGSLT-AFCYE>N<E----LALSCCQEEDEDDETEE------GN412
KCNJ15FYCADSEKQQ-------------------->-<-----LEEKY--RQ-EDQ------------360
KCNJ16AKQLDWK----DQQLHIEKAPPVR-ESCTS>D<TKARRRSFSAVAIVSSCENP-E------ET389
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 378 for KCNJ2.