Paralogue Annotation for KCNJ2 residue 350

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 350
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 350

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11V339GHyperinsulinismHigh9 23275527

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.



KCNJ2LWGHRYEPVLFEE-KHYYKVDYSRFHKTYE>V<PNTPL----CSARDLAEK----KYILSNA-371
KCNJ1LWGYRFAPIVSKTKEGKYRVDFHNFSKTVE>V<ET-PH----CAMCLYNEKDVR---------366
KCNJ3LWGHRFFPVISLE-EGFFKVDYSQFHATFE>V<P-TPP----YSVKEQEEMLLMSSPLIAPA-375
KCNJ4LWGHRFEPVVFEE-KSHYKVDYSRFHKTYE>V<AGTPC----CSARELQES----KITVLPAP364
KCNJ5LWGHRFTPVLTLE-KGFYEVDYNTFHDTYE>T<N-TPS----CCAKELAEMKREGRLLQYLP-381
KCNJ6LWGYRFTPVLTLE-DGFYEVDYNSFHETYE>T<S-TPS----LSAKELAELASRAELPLSWS-384
KCNJ8QWGHRFVSIVTEE-EGVYSVDYSKFGNTVK>V<A-APR----CSARELDEKPSILIQTLQKSE373
KCNJ9LWGHRFTSVLTLE-DGFYEVDYASFHETFE>V<P-TPS----CSARELAEAAARLDAHLYWS-352
KCNJ10LWGYEFTPAISLSASGKYIADFSLFDQVVK>V<AS-PSGLRDSTVRYGDPEKLK---------356
KCNJ11LWGQRFVPIVAEE-DGRYSVDYSKFGNTVK>V<P-TPL----CTARQLDEDHSLLEALTLAS-363
KCNJ12LWGHRFEPVLFEE-KNQYKIDYSHFHKTYE>V<PSTPR----CSAKDLVEN----KFLLPSA-372
KCNJ13MLHHCFASLLTRGSKGEYQIKMENFDKTVP>E<FPTPL----VS-KSP---NRT---------337
KCNJ14LWGHRFEPVLFQR-GSQYEVDYRHFHRTYE>V<PGTPV----CSAKELDERAEQASHSLKSSF381
KCNJ15YWGFEFVPVVSLSKNGKYVADFSQFEQIRK>S<P---D----CTFYCADSEKQQ---------350
KCNJ16LWGHRFNDVLEVK-RKYYKVNCLQFEGSVE>V<Y-APF----CSAKQLDWK----DQQLHIEK355
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 350 for KCNJ2.