Paralogue Annotation for KCNJ2 residue 217

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 217
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 217

No paralogue variants have been mapped to residue 217 for KCNJ2.



KCNJ2KKRNETLVFSHNAVIAMRDGKLCLMWRVGN>L<RKSHLVEAHVRAQLLKSRITSEGEYIPLDQ247
KCNJ1KKRAKTITFSKNAVISKRGGKLCLLIRVAN>L<RKSLLIGSHIYGKLLKTTVTPEGETIILDQ246
KCNJ3KKRAETLMFSEHAVISMRDGKLTLMFRVGN>L<RNSHMVSAQIRCKLLKSRQTPEGEFLPLDQ248
KCNJ4KKRAQTLLFSHHAVISVRDGKLCLMWRVGN>L<RKSHIVEAHVRAQLIKPYMTQEGEYLPLDQ239
KCNJ5KKRAETLMFSNNAVISMRDEKLCLMFRVGD>L<RNSHIVEASIRAKLIKSRQTKEGEFIPLNQ254
KCNJ6KKRAETLVFSTHAVISMRDGKLCLMFRVGD>L<RNSHIVEASIRAKLIKSKQTSEGEFIPLNQ257
KCNJ8HRRAETLIFSRHAVIAVRNGKLCFMFRVGD>L<RKSMIISASVRIQVVKKTTTPEGEVVPIHQ245
KCNJ9NKRAATLVFSSHAVVSLRDGRLCLMFRVGD>L<RSSHIVEASIRAKLIRSRQTLEGEFIPLHQ225
KCNJ10KKRAETIRFSQHAVVASHNGKPCLMIRVAN>M<RKSLLIGCQVTGKLLQTHQTKEGENIRLNQ233
KCNJ11HRRAETLIFSKHAVIALRHGRLCFMLRVGD>L<RKSMIISATIHMQVVRKTTSPEGEVVPLHQ235
KCNJ12KKRAQTLLFSHNAVVALRDGKLCLMWRVGN>L<RKSHIVEAHVRAQLIKPRVTEEGEYIPLDQ248
KCNJ13KNRAFSIRFTDTAVVAHMDGKPNLIFQVAN>T<RPSPLTSVRVSAVLYQERENGK----L-YQ219
KCNJ14KKRNETLVFSENAVVALRDHRLCLMWRVGN>L<RRSHLVEAHVRAQLLQPRVTPEGEYIPLDH252
KCNJ15KKRAETIKFSHCAVITKQNGKLCLVIQVAN>M<RKSLLIQCQLSGKLLQTHVTKEGERILLNQ232
KCNJ16RKRAQTIRFSYFALIGMRDGKLCLMWRIGD>F<RPNHVVEGTVRAQLLRYTEDSEGRM-TMAF235
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L217Pc.650T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063
Inherited ArrhythmiaLQTS Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve. 2012 46(2):193-203. doi: 10.1002/mus.23293. 22806368