Paralogue Annotation for KCNJ2 residue 151

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 151
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 151

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ5T158AAldosteronism with bilateral adrenal hyperplasiaHigh9

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.



KCNJ2ACVSEVNSFTAAFLFSIETQTTIGYGFRCV>T<DECPIAVFMVVFQSIVGCIIDAFIIGAVMA181
KCNJ1PCVENINGLTSAFLFSLETQVTIGYGFRCV>T<EQCATAIFLLIFQSILGVIINSFMCGAILA180
KCNJ3PCVANVYNFPSAFLFFIETEATIGYGYRYI>T<DKCPEGIILFLFQSILGSIVDAFLIGCMFI182
KCNJ4PCIMHVNGFLGAFLFSVETQTTIGYGFRCV>T<EECPLAVIAVVVQSIVGCVIDSFMIGTIMA173
KCNJ5PCVENLSGFVSAFLFSIETETTIGYGFRVI>T<EKCPEGIILLLVQAILGSIVNAFMVGCMFV188
KCNJ6PCVTNLNGFVSAFLFSIETETTIGYGYRVI>T<DKCPEGIILLLIQSVLGSIVNAFMVGCMFV191
KCNJ8VCVTNVRSFTSAFLFSIEVQVTIGFGGRMM>T<EECPLAITVLILQNIVGLIINAVMLGCIFM179
KCNJ9PCVNNLNGFVAAFLFSIETETTIGYGHRVI>T<DQCPEGIVLLLLQAILGSMVNAFMVGCMFV159
KCNJ10PCVVQVHTLTGAFLFSLESQTTIGYGFRYI>S<EECPLAIVLLIAQLVLTTILEIFITGTFLA167
KCNJ11PCVTSIHSFSSAFLFSIEVQVTIGFGGRMV>T<EECPLAILILIVQNIVGLMINAIMLGCIFM169
KCNJ12PCVMQVHGFMAAFLFSIETQTTIGYGLRCV>T<EECPVAVFMVVAQSIVGCIIDSFMIGAIMA182
KCNJ13ICVKYITSFTAAFSFSLETQLTIGYGTMFP>S<GDCPSAIALLAIQMLLGLMLEAFITGAFVA158
KCNJ14PCFSHVASFLAAFLFALETQTSIGYGVRSV>T<EECPAAVAAVVLQCIAGCVLDAFVVGAVMA186
KCNJ15PCIMKVDSLTGAFLFSLESQTTIGYGVRSI>T<EECPHAIFLLVAQLVITTLIEIFITGTFLA166
KCNJ16PCVDNVHSFTGAFLFSLETQTTIGYGYRCV>T<EECSVAVLMVILQSILSCIINTFIIGAALA170
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T151Mc.452C>T Putative BenignSIFT:
Polyphen: