No paralogue variants have been mapped to residue 217 for KCNJ2.
KCNJ2 | KKRNETLVFSHNAVIAMRDGKLCLMWRVGN>L<RKSHLVEAHVRAQLLKSRITSEGEYIPLDQ | 247 |
KCNJ1 | KKRAKTITFSKNAVISKRGGKLCLLIRVAN>L<RKSLLIGSHIYGKLLKTTVTPEGETIILDQ | 246 |
KCNJ3 | KKRAETLMFSEHAVISMRDGKLTLMFRVGN>L<RNSHMVSAQIRCKLLKSRQTPEGEFLPLDQ | 248 |
KCNJ4 | KKRAQTLLFSHHAVISVRDGKLCLMWRVGN>L<RKSHIVEAHVRAQLIKPYMTQEGEYLPLDQ | 239 |
KCNJ5 | KKRAETLMFSNNAVISMRDEKLCLMFRVGD>L<RNSHIVEASIRAKLIKSRQTKEGEFIPLNQ | 254 |
KCNJ6 | KKRAETLVFSTHAVISMRDGKLCLMFRVGD>L<RNSHIVEASIRAKLIKSKQTSEGEFIPLNQ | 257 |
KCNJ8 | HRRAETLIFSRHAVIAVRNGKLCFMFRVGD>L<RKSMIISASVRIQVVKKTTTPEGEVVPIHQ | 245 |
KCNJ9 | NKRAATLVFSSHAVVSLRDGRLCLMFRVGD>L<RSSHIVEASIRAKLIRSRQTLEGEFIPLHQ | 225 |
KCNJ10 | KKRAETIRFSQHAVVASHNGKPCLMIRVAN>M<RKSLLIGCQVTGKLLQTHQTKEGENIRLNQ | 233 |
KCNJ11 | HRRAETLIFSKHAVIALRHGRLCFMLRVGD>L<RKSMIISATIHMQVVRKTTSPEGEVVPLHQ | 235 |
KCNJ12 | KKRAQTLLFSHNAVVALRDGKLCLMWRVGN>L<RKSHIVEAHVRAQLIKPRVTEEGEYIPLDQ | 248 |
KCNJ13 | KNRAFSIRFTDTAVVAHMDGKPNLIFQVAN>T<RPSPLTSVRVSAVLYQERENGK----L-YQ | 219 |
KCNJ14 | KKRNETLVFSENAVVALRDHRLCLMWRVGN>L<RRSHLVEAHVRAQLLQPRVTPEGEYIPLDH | 252 |
KCNJ15 | KKRAETIKFSHCAVITKQNGKLCLVIQVAN>M<RKSLLIQCQLSGKLLQTHVTKEGERILLNQ | 232 |
KCNJ16 | RKRAQTIRFSYFALIGMRDGKLCLMWRIGD>F<RPNHVVEGTVRAQLLRYTEDSEGRM-TMAF | 235 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L217P | c.650T>C | Inherited Arrhythmia | LQTS | rs199473656 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063 | ||
Inherited Arrhythmia | LQTS | Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve. 2012 46(2):193-203. doi: 10.1002/mus.23293. 22806368 |