Paralogue Annotation for KCNJ2 residue 314

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 314
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 314

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1S313CBartter syndromeHigh9 11810218

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.



KCNJ2QDID-NADFEIVVILEGMVEATAMTTQCRS>S<YLANEILWGHRYEPVLFEE-KHYYKVDYSR343
KCNJ1ETLL-QQDFELVVFLDGTVESTSATCQVRT>S<YVPEEVLWGYRFAPIVSKTKEGKYRVDFHN343
KCNJ3RSMQ-TEQFEIVVILEGIVETTGMTCQART>S<YTEDEVLWGHRFFPVISLE-EGFFKVDYSQ344
KCNJ4EELE-SEDFEIVVILEGMVEATAMTTQARS>S<YLASEILWGHRFEPVVFEE-KSHYKVDYSR335
KCNJ5AQLH-QEEFEVVVILEGMVEATGMTCQARS>S<YMDTEVLWGHRFTPVLTLE-KGFYEVDYNT350
KCNJ6AQLP-KEELEIVVILEGMVEATGMTCQARS>S<YITSEILWGYRFTPVLTLE-DGFYEVDYNS353
KCNJ8TDLA-NQDLEVIVILEGVVETTGITTQART>S<YIAEEIQWGHRFVSIVTEE-EGVYSVDYSK341
KCNJ9RALE-RDDFEIVVILEGMVEATGMTCQARS>S<YLVDEVLWGHRFTSVLTLE-DGFYEVDYAS321
KCNJ10RSG--EGDFELVLILSGTVESTSATCQVRT>S<YLPEEILWGYEFTPAISLSASGKYIADFSL329
KCNJ11SDLHHHQDLEIIVILEGVVETTGITTQART>S<YLADEILWGQRFVPIVAEE-DGRYSVDYSK332
KCNJ12QDLE-TDDFEIVVILEGMVEATAMTTQARS>S<YLANEILWGHRFEPVLFEE-KNQYKIDYSH344
KCNJ13HE-N-PSHFELVVFLSAMQEGTGEICQRRT>S<YLPSEIMLHHCFASLLTRGSKGEYQIKMEN317
KCNJ14AELA-RADFELVVILEGMVEATAMTTQCRS>S<YLPGELLWGHRFEPVLFQR-GSQYEVDYRH348
KCNJ15QNLK-EKEFELVVLLNATVESTSAVCQSRT>S<YIPEEIYWGFEFVPVVSLSKNGKYVADFSQ329
KCNJ16KAVA-KDNFEILVTFIYTGDSTGTSHQSRS>S<YVPREILWGHRFNDVLEVK-RKYYKVNCLQ327
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 314 for KCNJ2.