Paralogue Annotation for KCNJ2 residue 225

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 225
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 225

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11A213THyperinsulinismHigh9 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.



KCNJ2FSHNAVIAMRDGKLCLMWRVGNLRKSHLVE>A<HVRAQLLKSRITSEGEYIPLDQIDINVGFD255
KCNJ1FSKNAVISKRGGKLCLLIRVANLRKSLLIG>S<HIYGKLLKTTVTPEGETIILDQININFVVD254
KCNJ3FSEHAVISMRDGKLTLMFRVGNLRNSHMVS>A<QIRCKLLKSRQTPEGEFLPLDQLELDVGFS256
KCNJ4FSHHAVISVRDGKLCLMWRVGNLRKSHIVE>A<HVRAQLIKPYMTQEGEYLPLDQRDLNVGYD247
KCNJ5FSNNAVISMRDEKLCLMFRVGDLRNSHIVE>A<SIRAKLIKSRQTKEGEFIPLNQTDINVGFD262
KCNJ6FSTHAVISMRDGKLCLMFRVGDLRNSHIVE>A<SIRAKLIKSKQTSEGEFIPLNQTDINVGYY265
KCNJ8FSRHAVIAVRNGKLCFMFRVGDLRKSMIIS>A<SVRIQVVKKTTTPEGEVVPIHQLDIPVDNP253
KCNJ9FSSHAVVSLRDGRLCLMFRVGDLRSSHIVE>A<SIRAKLIRSRQTLEGEFIPLHQTDLSVGFD233
KCNJ10FSQHAVVASHNGKPCLMIRVANMRKSLLIG>C<QVTGKLLQTHQTKEGENIRLNQVNVTFQVD241
KCNJ11FSKHAVIALRHGRLCFMLRVGDLRKSMIIS>A<TIHMQVVRKTTSPEGEVVPLHQVDIPMENG243
KCNJ12FSHNAVVALRDGKLCLMWRVGNLRKSHIVE>A<HVRAQLIKPRVTEEGEYIPLDQIDIDVGFD256
KCNJ13FTDTAVVAHMDGKPNLIFQVANTRPSPLTS>V<RVSAVLYQERENGK----L-YQTSVDFHLD227
KCNJ14FSENAVVALRDHRLCLMWRVGNLRRSHLVE>A<HVRAQLLQPRVTPEGEYIPLDHQDVDVGFD260
KCNJ15FSHCAVITKQNGKLCLVIQVANMRKSLLIQ>C<QLSGKLLQTHVTKEGERILLNQATVKFHVD240
KCNJ16FSYFALIGMRDGKLCLMWRIGDFRPNHVVE>G<TVRAQLLRYTEDSEGRM-TMAFKDLKLV--241
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 225 for KCNJ2.