Paralogue Annotation for KCNJ2 residue 358

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 358
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 358

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1M357TBartter syndromeMedium6 8841184, 20981092, 9580661, 12589089

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.



KCNJ2E-KHYYKVDYSRFHKTYEVPNTPL----CS>A<RDLAEK----KYILSNA-----N-SFCYEN378
KCNJ1TKEGKYRVDFHNFSKTVEVET-PH----CA>M<CLYNEKDVR---------------------366
KCNJ3E-EGFFKVDYSQFHATFEVP-TPP----YS>V<KEQEEMLLMSSPLIAPA-ITNSKERHNSVE387
KCNJ4E-KSHYKVDYSRFHKTYEVAGTPC----CS>A<RELQES----KITVLPAPPPPPS-AFCYEN375
KCNJ5E-KGFYEVDYNTFHDTYETN-TPS----CC>A<KELAEMKREGRLLQYLP-SPPLLGGCAEAG393
KCNJ6E-DGFYEVDYNSFHETYETS-TPS----LS>A<KELAELASRAELPLSWS-VSSKLNQHAELE396
KCNJ8E-EGVYSVDYSKFGNTVKVA-APR----CS>A<RELDEKPSILIQTLQKSELS-H------QN378
KCNJ9E-DGFYEVDYASFHETFEVP-TPS----CS>A<RELAEAAARLDAHLYWS-IPSRLDEKVEEE364
KCNJ10SASGKYIADFSLFDQVVKVAS-PSGLRDST>V<RYGDPEKLK---------------------356
KCNJ11E-DGRYSVDYSKFGNTVKVP-TPL----CT>A<RQLDEDHSLLEALTLAS----A------RG366
KCNJ12E-KNQYKIDYSHFHKTYEVPSTPR----CS>A<KDLVEN----KFLLPSA-----N-SFCYEN379
KCNJ13GSKGEYQIKMENFDKTVPEFPTPL----VS>-<KSP---NRT---------------------337
KCNJ14R-GSQYEVDYRHFHRTYEVPGTPV----CS>A<KELDERAEQASHSLKSSFPGSLT-AFCYEN392
KCNJ15SKNGKYVADFSQFEQIRKSP---D----CT>F<YCADSEKQQ---------------------350
KCNJ16K-RKYYKVNCLQFEGSVEVY-APF----CS>A<KQLDWK----DQQLHIEKAPPVR-ESCTSD366
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 358 for KCNJ2.