Paralogue Annotation for KCNJ2 residue 310

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 310
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 310

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11Q299HHyperinsulinism and hemihypertrophyHigh9 27173951

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.



KCNJ2DLSKQDID-NADFEIVVILEGMVEATAMTT>Q<CRSSYLANEILWGHRYEPVLFEE-KHYYKV339
KCNJ1HMAAETLL-QQDFELVVFLDGTVESTSATC>Q<VRTSYVPEEVLWGYRFAPIVSKTKEGKYRV339
KCNJ3DLSQRSMQ-TEQFEIVVILEGIVETTGMTC>Q<ARTSYTEDEVLWGHRFFPVISLE-EGFFKV340
KCNJ4GMGKEELE-SEDFEIVVILEGMVEATAMTT>Q<ARSSYLASEILWGHRFEPVVFEE-KSHYKV331
KCNJ5EMSQAQLH-QEEFEVVVILEGMVEATGMTC>Q<ARSSYMDTEVLWGHRFTPVLTLE-KGFYEV346
KCNJ6EISKAQLP-KEELEIVVILEGMVEATGMTC>Q<ARSSYITSEILWGYRFTPVLTLE-DGFYEV349
KCNJ8DISATDLA-NQDLEVIVILEGVVETTGITT>Q<ARTSYIAEEIQWGHRFVSIVTEE-EGVYSV337
KCNJ9EASRRALE-RDDFEIVVILEGMVEATGMTC>Q<ARSSYLVDEVLWGHRFTSVLTLE-DGFYEV317
KCNJ10DLPLRSG--EGDFELVLILSGTVESTSATC>Q<VRTSYLPEEILWGYEFTPAISLSASGKYIA325
KCNJ11DLAPSDLHHHQDLEIIVILEGVVETTGITT>Q<ARTSYLADEILWGQRFVPIVAEE-DGRYSV328
KCNJ12GISRQDLE-TDDFEIVVILEGMVEATAMTT>Q<ARSSYLANEILWGHRFEPVLFEE-KNQYKI340
KCNJ13TLLQHE-N-PSHFELVVFLSAMQEGTGEIC>Q<RRTSYLPSEIMLHHCFASLLTRGSKGEYQI313
KCNJ14ELGRAELA-RADFELVVILEGMVEATAMTT>Q<CRSSYLPGELLWGHRFEPVLFQR-GSQYEV344
KCNJ15DLTPQNLK-EKEFELVVLLNATVESTSAVC>Q<SRTSYIPEEIYWGFEFVPVVSLSKNGKYVA325
KCNJ16ALDRKAVA-KDNFEILVTFIYTGDSTGTSH>Q<SRSSYVPREILWGHRFNDVLEVK-RKYYKV323
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 310 for KCNJ2.