Paralogue Annotation for KCNJ2 residue 128

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 128
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 128

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11S116PHyperinsulinismHigh9 16357843
KCNJ13S105ILeber congenital amaurosisHigh9 27203561

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.



KCNJ2-------------------KEGKACVSEVN>S<FTAAFLFSIETQTTIGYGFRCVTDECPIAV158
KCNJ1-HP---------------SANHTPCVENIN>G<LTSAFLFSLETQVTIGYGFRCVTEQCATAI157
KCNJ3-HV----------------GNYTPCVANVY>N<FPSAFLFFIETEATIGYGYRYITDKCPEGI159
KCNJ4-PGVPAAGGPAAGGGGAAPVAPKPCIMHVN>G<FLGAFLFSVETQTTIGYGFRCVTEECPLAV150
KCNJ5-GD----------------QEWIPCVENLS>G<FVSAFLFSIETETTIGYGFRVITEKCPEGI165
KCNJ6-ED----------------PSWTPCVTNLN>G<FVSAFLFSIETETTIGYGYRVITDKCPEGI168
KCNJ8-MEKS--G------MEKSGLESTVCVTNVR>S<FTSAFLFSIEVQVTIGFGGRMMTEECPLAI156
KCNJ9-ED----------------TAWTPCVNNLN>G<FVAAFLFSIETETTIGYGHRVITDQCPEGI136
KCNJ10-DP---------------PANHTPCVVQVH>T<LTGAFLFSLESQTTIGYGFRYISEECPLAI144
KCNJ11--S-E------------GTA--EPCVTSIH>S<FSSAFLFSIEVQVTIGFGGRMVTEECPLAI146
KCNJ12-EG----------------RGRTPCVMQVH>G<FMAAFLFSIETQTTIGYGLRCVTEECPVAV159
KCNJ13DAP---------------PENHTICVKYIT>S<FTAAFSFSLETQLTIGYGTMFPSGDCPSAI135
KCNJ14-P------------------PPAPCFSHVA>S<FLAAFLFALETQTSIGYGVRSVTEECPAAV163
KCNJ15-EP---------------ISNHTPCIMKVD>S<LTGAFLFSLESQTTIGYGVRSITEECPHAI143
KCNJ16-P------------------DITPCVDNVH>S<FTGAFLFSLETQTTIGYGYRCVTEECSVAV147
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 128 for KCNJ2.