Paralogue Annotation for KCNJ2 residue 335

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 335
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 335

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11G324RDiabetes, neonatalMedium9 27118464

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.



KCNJ2AMTTQCRSSYLANEILWGHRYEPVLFEE-K>H<YYKVDYSRFHKTYEVPNTPL----CSARDL361
KCNJ1SATCQVRTSYVPEEVLWGYRFAPIVSKTKE>G<KYRVDFHNFSKTVEVET-PH----CAMCLY360
KCNJ3GMTCQARTSYTEDEVLWGHRFFPVISLE-E>G<FFKVDYSQFHATFEVP-TPP----YSVKEQ361
KCNJ4AMTTQARSSYLASEILWGHRFEPVVFEE-K>S<HYKVDYSRFHKTYEVAGTPC----CSAREL353
KCNJ5GMTCQARSSYMDTEVLWGHRFTPVLTLE-K>G<FYEVDYNTFHDTYETN-TPS----CCAKEL367
KCNJ6GMTCQARSSYITSEILWGYRFTPVLTLE-D>G<FYEVDYNSFHETYETS-TPS----LSAKEL370
KCNJ8GITTQARTSYIAEEIQWGHRFVSIVTEE-E>G<VYSVDYSKFGNTVKVA-APR----CSAREL358
KCNJ9GMTCQARSSYLVDEVLWGHRFTSVLTLE-D>G<FYEVDYASFHETFEVP-TPS----CSAREL338
KCNJ10SATCQVRTSYLPEEILWGYEFTPAISLSAS>G<KYIADFSLFDQVVKVAS-PSGLRDSTVRYG350
KCNJ11GITTQARTSYLADEILWGQRFVPIVAEE-D>G<RYSVDYSKFGNTVKVP-TPL----CTARQL349
KCNJ12AMTTQARSSYLANEILWGHRFEPVLFEE-K>N<QYKIDYSHFHKTYEVPSTPR----CSAKDL362
KCNJ13GEICQRRTSYLPSEIMLHHCFASLLTRGSK>G<EYQIKMENFDKTVPEFPTPL----VS-KSP334
KCNJ14AMTTQCRSSYLPGELLWGHRFEPVLFQR-G>S<QYEVDYRHFHRTYEVPGTPV----CSAKEL366
KCNJ15SAVCQSRTSYIPEEIYWGFEFVPVVSLSKN>G<KYVADFSQFEQIRKSP---D----CTFYCA344
KCNJ16GTSHQSRSSYVPREILWGHRFNDVLEVK-R>K<YYKVNCLQFEGSVEVY-APF----CSAKQL344
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 335 for KCNJ2.