Paralogue Annotation for KCNJ2 residue 323

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 323
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 323

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11G312CHyperinsulinismHigh9 25201519

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.



KCNJ2EIVVILEGMVEATAMTTQCRSSYLANEILW>G<HRYEPVLFEE-KHYYKVDYSRFHKTYEVPN352
KCNJ1ELVVFLDGTVESTSATCQVRTSYVPEEVLW>G<YRFAPIVSKTKEGKYRVDFHNFSKTVEVET352
KCNJ3EIVVILEGIVETTGMTCQARTSYTEDEVLW>G<HRFFPVISLE-EGFFKVDYSQFHATFEVP-352
KCNJ4EIVVILEGMVEATAMTTQARSSYLASEILW>G<HRFEPVVFEE-KSHYKVDYSRFHKTYEVAG344
KCNJ5EVVVILEGMVEATGMTCQARSSYMDTEVLW>G<HRFTPVLTLE-KGFYEVDYNTFHDTYETN-358
KCNJ6EIVVILEGMVEATGMTCQARSSYITSEILW>G<YRFTPVLTLE-DGFYEVDYNSFHETYETS-361
KCNJ8EVIVILEGVVETTGITTQARTSYIAEEIQW>G<HRFVSIVTEE-EGVYSVDYSKFGNTVKVA-349
KCNJ9EIVVILEGMVEATGMTCQARSSYLVDEVLW>G<HRFTSVLTLE-DGFYEVDYASFHETFEVP-329
KCNJ10ELVLILSGTVESTSATCQVRTSYLPEEILW>G<YEFTPAISLSASGKYIADFSLFDQVVKVAS338
KCNJ11EIIVILEGVVETTGITTQARTSYLADEILW>G<QRFVPIVAEE-DGRYSVDYSKFGNTVKVP-340
KCNJ12EIVVILEGMVEATAMTTQARSSYLANEILW>G<HRFEPVLFEE-KNQYKIDYSHFHKTYEVPS353
KCNJ13ELVVFLSAMQEGTGEICQRRTSYLPSEIML>H<HCFASLLTRGSKGEYQIKMENFDKTVPEFP326
KCNJ14ELVVILEGMVEATAMTTQCRSSYLPGELLW>G<HRFEPVLFQR-GSQYEVDYRHFHRTYEVPG357
KCNJ15ELVVLLNATVESTSAVCQSRTSYIPEEIYW>G<FEFVPVVSLSKNGKYVADFSQFEQIRKSP-337
KCNJ16EILVTFIYTGDSTGTSHQSRSSYVPREILW>G<HRFNDVLEVK-RKYYKVNCLQFEGSVEVY-335
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 323 for KCNJ2.