Paralogue Annotation for KCNJ2 residue 235

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 235
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 235

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11T223PHyperinsulinismMedium9 20685672

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.



KCNJ2DGKLCLMWRVGNLRKSHLVEAHVRAQLLKS>R<ITSEGEYIPLDQIDINVGFD--SGIDRIFL263
KCNJ1GGKLCLLIRVANLRKSLLIGSHIYGKLLKT>T<VTPEGETIILDQININFVVD--AGNENLFF262
KCNJ3DGKLTLMFRVGNLRNSHMVSAQIRCKLLKS>R<QTPEGEFLPLDQLELDVGFS--TGADQLFL264
KCNJ4DGKLCLMWRVGNLRKSHIVEAHVRAQLIKP>Y<MTQEGEYLPLDQRDLNVGYD--IGLDRIFL255
KCNJ5DEKLCLMFRVGDLRNSHIVEASIRAKLIKS>R<QTKEGEFIPLNQTDINVGFD--TGDDRLFL270
KCNJ6DGKLCLMFRVGDLRNSHIVEASIRAKLIKS>K<QTSEGEFIPLNQTDINVGYY--TGDDRLFL273
KCNJ8NGKLCFMFRVGDLRKSMIISASVRIQVVKK>T<TTPEGEVVPIHQLDIPVDNP--IESNNIFL261
KCNJ9DGRLCLMFRVGDLRSSHIVEASIRAKLIRS>R<QTLEGEFIPLHQTDLSVGFD--TGDDRLFL241
KCNJ10NGKPCLMIRVANMRKSLLIGCQVTGKLLQT>H<QTKEGENIRLNQVNVTFQVD--TASDSPFL249
KCNJ11HGRLCFMLRVGDLRKSMIISATIHMQVVRK>T<TSPEGEVVPLHQVDIPMENG--VGGNSIFL251
KCNJ12DGKLCLMWRVGNLRKSHIVEAHVRAQLIKP>R<VTEEGEYIPLDQIDIDVGFD--KGLDRIFL264
KCNJ13DGKPNLIFQVANTRPSPLTSVRVSAVLYQE>R<ENGK----L-YQTSVDFHLDGISSDECPFF237
KCNJ14DHRLCLMWRVGNLRRSHLVEAHVRAQLLQP>R<VTPEGEYIPLDHQDVDVGFD--GGTDRIFL268
KCNJ15NGKLCLVIQVANMRKSLLIQCQLSGKLLQT>H<VTKEGERILLNQATVKFHVD--SSSESPFL248
KCNJ16DGKLCLMWRIGDFRPNHVVEGTVRAQLLRY>T<EDSEGRM-TMAFKDLKLV------NDQIIL247
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 235 for KCNJ2.