Paralogue Annotation for KCNJ2 residue 229

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 229
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 229

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1G228EBartter syndromeMedium9 19096086, 19096086, 22245519

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.



KCNJ2AVIAMRDGKLCLMWRVGNLRKSHLVEAHVR>A<QLLKSRITSEGEYIPLDQIDINVGFD--SG257
KCNJ1AVISKRGGKLCLLIRVANLRKSLLIGSHIY>G<KLLKTTVTPEGETIILDQININFVVD--AG256
KCNJ3AVISMRDGKLTLMFRVGNLRNSHMVSAQIR>C<KLLKSRQTPEGEFLPLDQLELDVGFS--TG258
KCNJ4AVISVRDGKLCLMWRVGNLRKSHIVEAHVR>A<QLIKPYMTQEGEYLPLDQRDLNVGYD--IG249
KCNJ5AVISMRDEKLCLMFRVGDLRNSHIVEASIR>A<KLIKSRQTKEGEFIPLNQTDINVGFD--TG264
KCNJ6AVISMRDGKLCLMFRVGDLRNSHIVEASIR>A<KLIKSKQTSEGEFIPLNQTDINVGYY--TG267
KCNJ8AVIAVRNGKLCFMFRVGDLRKSMIISASVR>I<QVVKKTTTPEGEVVPIHQLDIPVDNP--IE255
KCNJ9AVVSLRDGRLCLMFRVGDLRSSHIVEASIR>A<KLIRSRQTLEGEFIPLHQTDLSVGFD--TG235
KCNJ10AVVASHNGKPCLMIRVANMRKSLLIGCQVT>G<KLLQTHQTKEGENIRLNQVNVTFQVD--TA243
KCNJ11AVIALRHGRLCFMLRVGDLRKSMIISATIH>M<QVVRKTTSPEGEVVPLHQVDIPMENG--VG245
KCNJ12AVVALRDGKLCLMWRVGNLRKSHIVEAHVR>A<QLIKPRVTEEGEYIPLDQIDIDVGFD--KG258
KCNJ13AVVAHMDGKPNLIFQVANTRPSPLTSVRVS>A<VLYQERENGK----L-YQTSVDFHLDGISS231
KCNJ14AVVALRDHRLCLMWRVGNLRRSHLVEAHVR>A<QLLQPRVTPEGEYIPLDHQDVDVGFD--GG262
KCNJ15AVITKQNGKLCLVIQVANMRKSLLIQCQLS>G<KLLQTHVTKEGERILLNQATVKFHVD--SS242
KCNJ16ALIGMRDGKLCLMWRIGDFRPNHVVEGTVR>A<QLLRYTEDSEGRM-TMAFKDLKLV------241
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 229 for KCNJ2.