Paralogue Annotation for KCNJ2 residue 326

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 326
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 326

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1F325CBartter syndromeMedium9 10611379
KCNJ11F315IHyperinsulinismMedium9 27181099

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.



KCNJ2VILEGMVEATAMTTQCRSSYLANEILWGHR>Y<EPVLFEE-KHYYKVDYSRFHKTYEVPNTPL355
KCNJ1VFLDGTVESTSATCQVRTSYVPEEVLWGYR>F<APIVSKTKEGKYRVDFHNFSKTVEVET-PH354
KCNJ3VILEGIVETTGMTCQARTSYTEDEVLWGHR>F<FPVISLE-EGFFKVDYSQFHATFEVP-TPP355
KCNJ4VILEGMVEATAMTTQARSSYLASEILWGHR>F<EPVVFEE-KSHYKVDYSRFHKTYEVAGTPC347
KCNJ5VILEGMVEATGMTCQARSSYMDTEVLWGHR>F<TPVLTLE-KGFYEVDYNTFHDTYETN-TPS361
KCNJ6VILEGMVEATGMTCQARSSYITSEILWGYR>F<TPVLTLE-DGFYEVDYNSFHETYETS-TPS364
KCNJ8VILEGVVETTGITTQARTSYIAEEIQWGHR>F<VSIVTEE-EGVYSVDYSKFGNTVKVA-APR352
KCNJ9VILEGMVEATGMTCQARSSYLVDEVLWGHR>F<TSVLTLE-DGFYEVDYASFHETFEVP-TPS332
KCNJ10LILSGTVESTSATCQVRTSYLPEEILWGYE>F<TPAISLSASGKYIADFSLFDQVVKVAS-PS340
KCNJ11VILEGVVETTGITTQARTSYLADEILWGQR>F<VPIVAEE-DGRYSVDYSKFGNTVKVP-TPL343
KCNJ12VILEGMVEATAMTTQARSSYLANEILWGHR>F<EPVLFEE-KNQYKIDYSHFHKTYEVPSTPR356
KCNJ13VFLSAMQEGTGEICQRRTSYLPSEIMLHHC>F<ASLLTRGSKGEYQIKMENFDKTVPEFPTPL329
KCNJ14VILEGMVEATAMTTQCRSSYLPGELLWGHR>F<EPVLFQR-GSQYEVDYRHFHRTYEVPGTPV360
KCNJ15VLLNATVESTSAVCQSRTSYIPEEIYWGFE>F<VPVVSLSKNGKYVADFSQFEQIRKSP---D338
KCNJ16VTFIYTGDSTGTSHQSRSSYVPREILWGHR>F<NDVLEVK-RKYYKVNCLQFEGSVEVY-APF338
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Tyr326Asnc.976T>A UnknownSIFT:
Polyphen: