Paralogue Annotation for KCNJ2 residue 208

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 208
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 208

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ10P194HHearing loss, digenic non-syndromicMedium9 19426954

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.



KCNJ2AVMAKMAKPKKRNETLVFSHNAVIAMRDGK>L<CLMWRVGNLRKSHLVEAHVRAQLLKSRITS238
KCNJ1AILAKISRPKKRAKTITFSKNAVISKRGGK>L<CLLIRVANLRKSLLIGSHIYGKLLKTTVTP237
KCNJ3CMFIKMSQPKKRAETLMFSEHAVISMRDGK>L<TLMFRVGNLRNSHMVSAQIRCKLLKSRQTP239
KCNJ4TIMAKMARPKKRAQTLLFSHHAVISVRDGK>L<CLMWRVGNLRKSHIVEAHVRAQLIKPYMTQ230
KCNJ5CMFVKISQPKKRAETLMFSNNAVISMRDEK>L<CLMFRVGDLRNSHIVEASIRAKLIKSRQTK245
KCNJ6CMFVKISQPKKRAETLVFSTHAVISMRDGK>L<CLMFRVGDLRNSHIVEASIRAKLIKSKQTS248
KCNJ8CIFMKTAQAHRRAETLIFSRHAVIAVRNGK>L<CFMFRVGDLRKSMIISASVRIQVVKKTTTP236
KCNJ9CMFVKISQPNKRAATLVFSSHAVVSLRDGR>L<CLMFRVGDLRSSHIVEASIRAKLIRSRQTL216
KCNJ10TFLAKIARPKKRAETIRFSQHAVVASHNGK>P<CLMIRVANMRKSLLIGCQVTGKLLQTHQTK224
KCNJ11CIFMKTAQAHRRAETLIFSKHAVIALRHGR>L<CFMLRVGDLRKSMIISATIHMQVVRKTTSP226
KCNJ12AIMAKMARPKKRAQTLLFSHNAVVALRDGK>L<CLMWRVGNLRKSHIVEAHVRAQLIKPRVTE239
KCNJ13AFVAKIARPKNRAFSIRFTDTAVVAHMDGK>P<NLIFQVANTRPSPLTSVRVSAVLYQERENG215
KCNJ14AVMAKMAKPKKRNETLVFSENAVVALRDHR>L<CLMWRVGNLRRSHLVEAHVRAQLLQPRVTP243
KCNJ15TFLAKIARPKKRAETIKFSHCAVITKQNGK>L<CLVIQVANMRKSLLIQCQLSGKLLQTHVTK223
KCNJ16AALAKMATARKRAQTIRFSYFALIGMRDGK>L<CLMWRIGDFRPNHVVEGTVRAQLLRYTEDS227
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 208 for KCNJ2.