Paralogue Annotation for KCNJ2 residue 233

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 233
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 233

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11R221HHyperinsulinism and hemihypertrophyMedium9 27173951

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.



KCNJ2MRDGKLCLMWRVGNLRKSHLVEAHVRAQLL>K<SRITSEGEYIPLDQIDINVGFD--SGIDRI261
KCNJ1KRGGKLCLLIRVANLRKSLLIGSHIYGKLL>K<TTVTPEGETIILDQININFVVD--AGNENL260
KCNJ3MRDGKLTLMFRVGNLRNSHMVSAQIRCKLL>K<SRQTPEGEFLPLDQLELDVGFS--TGADQL262
KCNJ4VRDGKLCLMWRVGNLRKSHIVEAHVRAQLI>K<PYMTQEGEYLPLDQRDLNVGYD--IGLDRI253
KCNJ5MRDEKLCLMFRVGDLRNSHIVEASIRAKLI>K<SRQTKEGEFIPLNQTDINVGFD--TGDDRL268
KCNJ6MRDGKLCLMFRVGDLRNSHIVEASIRAKLI>K<SKQTSEGEFIPLNQTDINVGYY--TGDDRL271
KCNJ8VRNGKLCFMFRVGDLRKSMIISASVRIQVV>K<KTTTPEGEVVPIHQLDIPVDNP--IESNNI259
KCNJ9LRDGRLCLMFRVGDLRSSHIVEASIRAKLI>R<SRQTLEGEFIPLHQTDLSVGFD--TGDDRL239
KCNJ10SHNGKPCLMIRVANMRKSLLIGCQVTGKLL>Q<THQTKEGENIRLNQVNVTFQVD--TASDSP247
KCNJ11LRHGRLCFMLRVGDLRKSMIISATIHMQVV>R<KTTSPEGEVVPLHQVDIPMENG--VGGNSI249
KCNJ12LRDGKLCLMWRVGNLRKSHIVEAHVRAQLI>K<PRVTEEGEYIPLDQIDIDVGFD--KGLDRI262
KCNJ13HMDGKPNLIFQVANTRPSPLTSVRVSAVLY>Q<ERENGK----L-YQTSVDFHLDGISSDECP235
KCNJ14LRDHRLCLMWRVGNLRRSHLVEAHVRAQLL>Q<PRVTPEGEYIPLDHQDVDVGFD--GGTDRI266
KCNJ15KQNGKLCLVIQVANMRKSLLIQCQLSGKLL>Q<THVTKEGERILLNQATVKFHVD--SSSESP246
KCNJ16MRDGKLCLMWRIGDFRPNHVVEGTVRAQLL>R<YTEDSEGRM-TMAFKDLKLV------NDQI245
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 233 for KCNJ2.