No paralogue variants have been mapped to residue 206 for KCNJ2.
KCNJ2 | IGAVMAKMAKPKKRNETLVFSHNAVIAMRD>G<KLCLMWRVGNLRKSHLVEAHVRAQLLKSRI | 236 |
KCNJ1 | CGAILAKISRPKKRAKTITFSKNAVISKRG>G<KLCLLIRVANLRKSLLIGSHIYGKLLKTTV | 235 |
KCNJ3 | IGCMFIKMSQPKKRAETLMFSEHAVISMRD>G<KLTLMFRVGNLRNSHMVSAQIRCKLLKSRQ | 237 |
KCNJ4 | IGTIMAKMARPKKRAQTLLFSHHAVISVRD>G<KLCLMWRVGNLRKSHIVEAHVRAQLIKPYM | 228 |
KCNJ5 | VGCMFVKISQPKKRAETLMFSNNAVISMRD>E<KLCLMFRVGDLRNSHIVEASIRAKLIKSRQ | 243 |
KCNJ6 | VGCMFVKISQPKKRAETLVFSTHAVISMRD>G<KLCLMFRVGDLRNSHIVEASIRAKLIKSKQ | 246 |
KCNJ8 | LGCIFMKTAQAHRRAETLIFSRHAVIAVRN>G<KLCFMFRVGDLRKSMIISASVRIQVVKKTT | 234 |
KCNJ9 | VGCMFVKISQPNKRAATLVFSSHAVVSLRD>G<RLCLMFRVGDLRSSHIVEASIRAKLIRSRQ | 214 |
KCNJ10 | TGTFLAKIARPKKRAETIRFSQHAVVASHN>G<KPCLMIRVANMRKSLLIGCQVTGKLLQTHQ | 222 |
KCNJ11 | LGCIFMKTAQAHRRAETLIFSKHAVIALRH>G<RLCFMLRVGDLRKSMIISATIHMQVVRKTT | 224 |
KCNJ12 | IGAIMAKMARPKKRAQTLLFSHNAVVALRD>G<KLCLMWRVGNLRKSHIVEAHVRAQLIKPRV | 237 |
KCNJ13 | TGAFVAKIARPKNRAFSIRFTDTAVVAHMD>G<KPNLIFQVANTRPSPLTSVRVSAVLYQERE | 213 |
KCNJ14 | VGAVMAKMAKPKKRNETLVFSENAVVALRD>H<RLCLMWRVGNLRRSHLVEAHVRAQLLQPRV | 241 |
KCNJ15 | TGTFLAKIARPKKRAETIKFSHCAVITKQN>G<KLCLVIQVANMRKSLLIQCQLSGKLLQTHV | 221 |
KCNJ16 | IGAALAKMATARKRAQTIRFSYFALIGMRD>G<KLCLMWRIGDFRPNHVVEGTVRAQLLRYTE | 225 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G206S | c.616G>A | Inherited Arrhythmia | LQTS | rs141035459 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||
p.G206D | c.617G>A | Putative Benign | rs370571312 | SIFT: tolerated Polyphen: possibly damaging |