Paralogue Annotation for KCNJ2 residue 187

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 187
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 187

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1K186EBartter syndrome, antenatalHigh9 22245519

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.



KCNJ2AVFMVVFQSIVGCIIDAFIIGAVMAKMAKP>K<KRNETLVFSHNAVIAMRDGKLCLMWRVGNL217
KCNJ1AIFLLIFQSILGVIINSFMCGAILAKISRP>K<KRAKTITFSKNAVISKRGGKLCLLIRVANL216
KCNJ3GIILFLFQSILGSIVDAFLIGCMFIKMSQP>K<KRAETLMFSEHAVISMRDGKLTLMFRVGNL218
KCNJ4AVIAVVVQSIVGCVIDSFMIGTIMAKMARP>K<KRAQTLLFSHHAVISVRDGKLCLMWRVGNL209
KCNJ5GIILLLVQAILGSIVNAFMVGCMFVKISQP>K<KRAETLMFSNNAVISMRDEKLCLMFRVGDL224
KCNJ6GIILLLIQSVLGSIVNAFMVGCMFVKISQP>K<KRAETLVFSTHAVISMRDGKLCLMFRVGDL227
KCNJ8AITVLILQNIVGLIINAVMLGCIFMKTAQA>H<RRAETLIFSRHAVIAVRNGKLCFMFRVGDL215
KCNJ9GIVLLLLQAILGSMVNAFMVGCMFVKISQP>N<KRAATLVFSSHAVVSLRDGRLCLMFRVGDL195
KCNJ10AIVLLIAQLVLTTILEIFITGTFLAKIARP>K<KRAETIRFSQHAVVASHNGKPCLMIRVANM203
KCNJ11AILILIVQNIVGLMINAIMLGCIFMKTAQA>H<RRAETLIFSKHAVIALRHGRLCFMLRVGDL205
KCNJ12AVFMVVAQSIVGCIIDSFMIGAIMAKMARP>K<KRAQTLLFSHNAVVALRDGKLCLMWRVGNL218
KCNJ13AIALLAIQMLLGLMLEAFITGAFVAKIARP>K<NRAFSIRFTDTAVVAHMDGKPNLIFQVANT194
KCNJ14AVAAVVLQCIAGCVLDAFVVGAVMAKMAKP>K<KRNETLVFSENAVVALRDHRLCLMWRVGNL222
KCNJ15AIFLLVAQLVITTLIEIFITGTFLAKIARP>K<KRAETIKFSHCAVITKQNGKLCLVIQVANM202
KCNJ16AVLMVILQSILSCIINTFIIGAALAKMATA>R<KRAQTIRFSYFALIGMRDGKLCLMWRIGDF206
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K187Rc.560A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365