Paralogue Annotation for KCNJ2 residue 315

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 315
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 315

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1Y314CBartter syndromeHigh9 12911542

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.



KCNJ2DID-NADFEIVVILEGMVEATAMTTQCRSS>Y<LANEILWGHRYEPVLFEE-KHYYKVDYSRF344
KCNJ1TLL-QQDFELVVFLDGTVESTSATCQVRTS>Y<VPEEVLWGYRFAPIVSKTKEGKYRVDFHNF344
KCNJ3SMQ-TEQFEIVVILEGIVETTGMTCQARTS>Y<TEDEVLWGHRFFPVISLE-EGFFKVDYSQF345
KCNJ4ELE-SEDFEIVVILEGMVEATAMTTQARSS>Y<LASEILWGHRFEPVVFEE-KSHYKVDYSRF336
KCNJ5QLH-QEEFEVVVILEGMVEATGMTCQARSS>Y<MDTEVLWGHRFTPVLTLE-KGFYEVDYNTF351
KCNJ6QLP-KEELEIVVILEGMVEATGMTCQARSS>Y<ITSEILWGYRFTPVLTLE-DGFYEVDYNSF354
KCNJ8DLA-NQDLEVIVILEGVVETTGITTQARTS>Y<IAEEIQWGHRFVSIVTEE-EGVYSVDYSKF342
KCNJ9ALE-RDDFEIVVILEGMVEATGMTCQARSS>Y<LVDEVLWGHRFTSVLTLE-DGFYEVDYASF322
KCNJ10SG--EGDFELVLILSGTVESTSATCQVRTS>Y<LPEEILWGYEFTPAISLSASGKYIADFSLF330
KCNJ11DLHHHQDLEIIVILEGVVETTGITTQARTS>Y<LADEILWGQRFVPIVAEE-DGRYSVDYSKF333
KCNJ12DLE-TDDFEIVVILEGMVEATAMTTQARSS>Y<LANEILWGHRFEPVLFEE-KNQYKIDYSHF345
KCNJ13E-N-PSHFELVVFLSAMQEGTGEICQRRTS>Y<LPSEIMLHHCFASLLTRGSKGEYQIKMENF318
KCNJ14ELA-RADFELVVILEGMVEATAMTTQCRSS>Y<LPGELLWGHRFEPVLFQR-GSQYEVDYRHF349
KCNJ15NLK-EKEFELVVLLNATVESTSAVCQSRTS>Y<IPEEIYWGFEFVPVVSLSKNGKYVADFSQF330
KCNJ16AVA-KDNFEILVTFIYTGDSTGTSHQSRSS>Y<VPREILWGHRFNDVLEVK-RKYYKVNCLQF328
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 315 for KCNJ2.