Paralogue Annotation for KCNJ2 residue 181

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 181
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 181

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ10A167VSeSAME syndromeHigh9 19289823, 20678478, 20807765, 21088294, 24193250, 24561201

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.



KCNJ2TDECPIAVFMVVFQSIVGCIIDAFIIGAVM>A<KMAKPKKRNETLVFSHNAVIAMRDGKLCLM211
KCNJ1TEQCATAIFLLIFQSILGVIINSFMCGAIL>A<KISRPKKRAKTITFSKNAVISKRGGKLCLL210
KCNJ3TDKCPEGIILFLFQSILGSIVDAFLIGCMF>I<KMSQPKKRAETLMFSEHAVISMRDGKLTLM212
KCNJ4TEECPLAVIAVVVQSIVGCVIDSFMIGTIM>A<KMARPKKRAQTLLFSHHAVISVRDGKLCLM203
KCNJ5TEKCPEGIILLLVQAILGSIVNAFMVGCMF>V<KISQPKKRAETLMFSNNAVISMRDEKLCLM218
KCNJ6TDKCPEGIILLLIQSVLGSIVNAFMVGCMF>V<KISQPKKRAETLVFSTHAVISMRDGKLCLM221
KCNJ8TEECPLAITVLILQNIVGLIINAVMLGCIF>M<KTAQAHRRAETLIFSRHAVIAVRNGKLCFM209
KCNJ9TDQCPEGIVLLLLQAILGSMVNAFMVGCMF>V<KISQPNKRAATLVFSSHAVVSLRDGRLCLM189
KCNJ10SEECPLAIVLLIAQLVLTTILEIFITGTFL>A<KIARPKKRAETIRFSQHAVVASHNGKPCLM197
KCNJ11TEECPLAILILIVQNIVGLMINAIMLGCIF>M<KTAQAHRRAETLIFSKHAVIALRHGRLCFM199
KCNJ12TEECPVAVFMVVAQSIVGCIIDSFMIGAIM>A<KMARPKKRAQTLLFSHNAVVALRDGKLCLM212
KCNJ13SGDCPSAIALLAIQMLLGLMLEAFITGAFV>A<KIARPKNRAFSIRFTDTAVVAHMDGKPNLI188
KCNJ14TEECPAAVAAVVLQCIAGCVLDAFVVGAVM>A<KMAKPKKRNETLVFSENAVVALRDHRLCLM216
KCNJ15TEECPHAIFLLVAQLVITTLIEIFITGTFL>A<KIARPKKRAETIKFSHCAVITKQNGKLCLV196
KCNJ16TEECSVAVLMVILQSILSCIINTFIIGAAL>A<KMATARKRAQTIRFSYFALIGMRDGKLCLM200
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 181 for KCNJ2.