Paralogue Annotation for KCNJ2 residue 220

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 220
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 220

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1S219RBartter syndromeHigh9 8841184, 9580661, 24400161

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.



KCNJ2NETLVFSHNAVIAMRDGKLCLMWRVGNLRK>S<HLVEAHVRAQLLKSRITSEGEYIPLDQIDI250
KCNJ1AKTITFSKNAVISKRGGKLCLLIRVANLRK>S<LLIGSHIYGKLLKTTVTPEGETIILDQINI249
KCNJ3AETLMFSEHAVISMRDGKLTLMFRVGNLRN>S<HMVSAQIRCKLLKSRQTPEGEFLPLDQLEL251
KCNJ4AQTLLFSHHAVISVRDGKLCLMWRVGNLRK>S<HIVEAHVRAQLIKPYMTQEGEYLPLDQRDL242
KCNJ5AETLMFSNNAVISMRDEKLCLMFRVGDLRN>S<HIVEASIRAKLIKSRQTKEGEFIPLNQTDI257
KCNJ6AETLVFSTHAVISMRDGKLCLMFRVGDLRN>S<HIVEASIRAKLIKSKQTSEGEFIPLNQTDI260
KCNJ8AETLIFSRHAVIAVRNGKLCFMFRVGDLRK>S<MIISASVRIQVVKKTTTPEGEVVPIHQLDI248
KCNJ9AATLVFSSHAVVSLRDGRLCLMFRVGDLRS>S<HIVEASIRAKLIRSRQTLEGEFIPLHQTDL228
KCNJ10AETIRFSQHAVVASHNGKPCLMIRVANMRK>S<LLIGCQVTGKLLQTHQTKEGENIRLNQVNV236
KCNJ11AETLIFSKHAVIALRHGRLCFMLRVGDLRK>S<MIISATIHMQVVRKTTSPEGEVVPLHQVDI238
KCNJ12AQTLLFSHNAVVALRDGKLCLMWRVGNLRK>S<HIVEAHVRAQLIKPRVTEEGEYIPLDQIDI251
KCNJ13AFSIRFTDTAVVAHMDGKPNLIFQVANTRP>S<PLTSVRVSAVLYQERENGK----L-YQTSV222
KCNJ14NETLVFSENAVVALRDHRLCLMWRVGNLRR>S<HLVEAHVRAQLLQPRVTPEGEYIPLDHQDV255
KCNJ15AETIKFSHCAVITKQNGKLCLVIQVANMRK>S<LLIQCQLSGKLLQTHVTKEGERILLNQATV235
KCNJ16AQTIRFSYFALIGMRDGKLCLMWRIGDFRP>N<HVVEGTVRAQLLRYTEDSEGRM-TMAFKDL238
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 220 for KCNJ2.