Paralogue Annotation for KCNJ2 residue 182

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 182
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 182

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11K170TDiabetes, permanent neonatalHigh9 16609879
KCNJ11K170RDiabetes, permanent neonatalHigh9 15580558
KCNJ11K170NDiabetes, permanent neonatalHigh9 15580558

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.



KCNJ2DECPIAVFMVVFQSIVGCIIDAFIIGAVMA>K<MAKPKKRNETLVFSHNAVIAMRDGKLCLMW212
KCNJ1EQCATAIFLLIFQSILGVIINSFMCGAILA>K<ISRPKKRAKTITFSKNAVISKRGGKLCLLI211
KCNJ3DKCPEGIILFLFQSILGSIVDAFLIGCMFI>K<MSQPKKRAETLMFSEHAVISMRDGKLTLMF213
KCNJ4EECPLAVIAVVVQSIVGCVIDSFMIGTIMA>K<MARPKKRAQTLLFSHHAVISVRDGKLCLMW204
KCNJ5EKCPEGIILLLVQAILGSIVNAFMVGCMFV>K<ISQPKKRAETLMFSNNAVISMRDEKLCLMF219
KCNJ6DKCPEGIILLLIQSVLGSIVNAFMVGCMFV>K<ISQPKKRAETLVFSTHAVISMRDGKLCLMF222
KCNJ8EECPLAITVLILQNIVGLIINAVMLGCIFM>K<TAQAHRRAETLIFSRHAVIAVRNGKLCFMF210
KCNJ9DQCPEGIVLLLLQAILGSMVNAFMVGCMFV>K<ISQPNKRAATLVFSSHAVVSLRDGRLCLMF190
KCNJ10EECPLAIVLLIAQLVLTTILEIFITGTFLA>K<IARPKKRAETIRFSQHAVVASHNGKPCLMI198
KCNJ11EECPLAILILIVQNIVGLMINAIMLGCIFM>K<TAQAHRRAETLIFSKHAVIALRHGRLCFML200
KCNJ12EECPVAVFMVVAQSIVGCIIDSFMIGAIMA>K<MARPKKRAQTLLFSHNAVVALRDGKLCLMW213
KCNJ13GDCPSAIALLAIQMLLGLMLEAFITGAFVA>K<IARPKNRAFSIRFTDTAVVAHMDGKPNLIF189
KCNJ14EECPAAVAAVVLQCIAGCVLDAFVVGAVMA>K<MAKPKKRNETLVFSENAVVALRDHRLCLMW217
KCNJ15EECPHAIFLLVAQLVITTLIEIFITGTFLA>K<IARPKKRAETIKFSHCAVITKQNGKLCLVI197
KCNJ16EECSVAVLMVILQSILSCIINTFIIGAALA>K<MATARKRAQTIRFSYFALIGMRDGKLCLMW201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 182 for KCNJ2.