Paralogue Annotation for KCNJ2 residue 157

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 157
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 157

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1A156VBartter syndromeHigh9 9502574, 10878442

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.



KCNJ2NSFTAAFLFSIETQTTIGYGFRCVTDECPI>A<VFMVVFQSIVGCIIDAFIIGAVMAKMAKPK187
KCNJ1NGLTSAFLFSLETQVTIGYGFRCVTEQCAT>A<IFLLIFQSILGVIINSFMCGAILAKISRPK186
KCNJ3YNFPSAFLFFIETEATIGYGYRYITDKCPE>G<IILFLFQSILGSIVDAFLIGCMFIKMSQPK188
KCNJ4NGFLGAFLFSVETQTTIGYGFRCVTEECPL>A<VIAVVVQSIVGCVIDSFMIGTIMAKMARPK179
KCNJ5SGFVSAFLFSIETETTIGYGFRVITEKCPE>G<IILLLVQAILGSIVNAFMVGCMFVKISQPK194
KCNJ6NGFVSAFLFSIETETTIGYGYRVITDKCPE>G<IILLLIQSVLGSIVNAFMVGCMFVKISQPK197
KCNJ8RSFTSAFLFSIEVQVTIGFGGRMMTEECPL>A<ITVLILQNIVGLIINAVMLGCIFMKTAQAH185
KCNJ9NGFVAAFLFSIETETTIGYGHRVITDQCPE>G<IVLLLLQAILGSMVNAFMVGCMFVKISQPN165
KCNJ10HTLTGAFLFSLESQTTIGYGFRYISEECPL>A<IVLLIAQLVLTTILEIFITGTFLAKIARPK173
KCNJ11HSFSSAFLFSIEVQVTIGFGGRMVTEECPL>A<ILILIVQNIVGLMINAIMLGCIFMKTAQAH175
KCNJ12HGFMAAFLFSIETQTTIGYGLRCVTEECPV>A<VFMVVAQSIVGCIIDSFMIGAIMAKMARPK188
KCNJ13TSFTAAFSFSLETQLTIGYGTMFPSGDCPS>A<IALLAIQMLLGLMLEAFITGAFVAKIARPK164
KCNJ14ASFLAAFLFALETQTSIGYGVRSVTEECPA>A<VAAVVLQCIAGCVLDAFVVGAVMAKMAKPK192
KCNJ15DSLTGAFLFSLESQTTIGYGVRSITEECPH>A<IFLLVAQLVITTLIEIFITGTFLAKIARPK172
KCNJ16HSFTGAFLFSLETQTTIGYGYRCVTEECSV>A<VLMVILQSILSCIINTFIIGAALAKMATAR176
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 157 for KCNJ2.