Paralogue Annotation for KCNJ2 residue 344

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 344
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 344

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11F333IDiabetes, permanent neonatalHigh9 15448106, 17855752
KCNJ11F333SHyperinsulinismHigh9 20685672
KCNJ11F333LDiabetes, neonatalHigh9 24265373

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.



KCNJ2YLANEILWGHRYEPVLFEE-KHYYKVDYSR>F<HKTYEVPNTPL----CSARDLAEK----KY366
KCNJ1YVPEEVLWGYRFAPIVSKTKEGKYRVDFHN>F<SKTVEVET-PH----CAMCLYNEKDVR---366
KCNJ3YTEDEVLWGHRFFPVISLE-EGFFKVDYSQ>F<HATFEVP-TPP----YSVKEQEEMLLMSSP370
KCNJ4YLASEILWGHRFEPVVFEE-KSHYKVDYSR>F<HKTYEVAGTPC----CSARELQES----KI358
KCNJ5YMDTEVLWGHRFTPVLTLE-KGFYEVDYNT>F<HDTYETN-TPS----CCAKELAEMKREGRL376
KCNJ6YITSEILWGYRFTPVLTLE-DGFYEVDYNS>F<HETYETS-TPS----LSAKELAELASRAEL379
KCNJ8YIAEEIQWGHRFVSIVTEE-EGVYSVDYSK>F<GNTVKVA-APR----CSARELDEKPSILIQ367
KCNJ9YLVDEVLWGHRFTSVLTLE-DGFYEVDYAS>F<HETFEVP-TPS----CSARELAEAAARLDA347
KCNJ10YLPEEILWGYEFTPAISLSASGKYIADFSL>F<DQVVKVAS-PSGLRDSTVRYGDPEKLK---356
KCNJ11YLADEILWGQRFVPIVAEE-DGRYSVDYSK>F<GNTVKVP-TPL----CTARQLDEDHSLLEA358
KCNJ12YLANEILWGHRFEPVLFEE-KNQYKIDYSH>F<HKTYEVPSTPR----CSAKDLVEN----KF367
KCNJ13YLPSEIMLHHCFASLLTRGSKGEYQIKMEN>F<DKTVPEFPTPL----VS-KSP---NRT---337
KCNJ14YLPGELLWGHRFEPVLFQR-GSQYEVDYRH>F<HRTYEVPGTPV----CSAKELDERAEQASH375
KCNJ15YIPEEIYWGFEFVPVVSLSKNGKYVADFSQ>F<EQIRKSP---D----CTFYCADSEKQQ---350
KCNJ16YVPREILWGHRFNDVLEVK-RKYYKVNCLQ>F<EGSVEVY-APF----CSAKQLDWK----DQ349
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 344 for KCNJ2.