No paralogue variants have been mapped to residue 322 for KCNJ2.
KCNJ2 | FEIVVILEGMVEATAMTTQCRSSYLANEIL>W<GHRYEPVLFEE-KHYYKVDYSRFHKTYEVP | 351 |
KCNJ1 | FELVVFLDGTVESTSATCQVRTSYVPEEVL>W<GYRFAPIVSKTKEGKYRVDFHNFSKTVEVE | 351 |
KCNJ3 | FEIVVILEGIVETTGMTCQARTSYTEDEVL>W<GHRFFPVISLE-EGFFKVDYSQFHATFEVP | 352 |
KCNJ4 | FEIVVILEGMVEATAMTTQARSSYLASEIL>W<GHRFEPVVFEE-KSHYKVDYSRFHKTYEVA | 343 |
KCNJ5 | FEVVVILEGMVEATGMTCQARSSYMDTEVL>W<GHRFTPVLTLE-KGFYEVDYNTFHDTYETN | 358 |
KCNJ6 | LEIVVILEGMVEATGMTCQARSSYITSEIL>W<GYRFTPVLTLE-DGFYEVDYNSFHETYETS | 361 |
KCNJ8 | LEVIVILEGVVETTGITTQARTSYIAEEIQ>W<GHRFVSIVTEE-EGVYSVDYSKFGNTVKVA | 349 |
KCNJ9 | FEIVVILEGMVEATGMTCQARSSYLVDEVL>W<GHRFTSVLTLE-DGFYEVDYASFHETFEVP | 329 |
KCNJ10 | FELVLILSGTVESTSATCQVRTSYLPEEIL>W<GYEFTPAISLSASGKYIADFSLFDQVVKVA | 337 |
KCNJ11 | LEIIVILEGVVETTGITTQARTSYLADEIL>W<GQRFVPIVAEE-DGRYSVDYSKFGNTVKVP | 340 |
KCNJ12 | FEIVVILEGMVEATAMTTQARSSYLANEIL>W<GHRFEPVLFEE-KNQYKIDYSHFHKTYEVP | 352 |
KCNJ13 | FELVVFLSAMQEGTGEICQRRTSYLPSEIM>L<HHCFASLLTRGSKGEYQIKMENFDKTVPEF | 325 |
KCNJ14 | FELVVILEGMVEATAMTTQCRSSYLPGELL>W<GHRFEPVLFQR-GSQYEVDYRHFHRTYEVP | 356 |
KCNJ15 | FELVVLLNATVESTSAVCQSRTSYIPEEIY>W<GFEFVPVVSLSKNGKYVADFSQFEQIRKSP | 337 |
KCNJ16 | FEILVTFIYTGDSTGTSHQSRSSYVPREIL>W<GHRFNDVLEVK-RKYYKVNCLQFEGSVEVY | 335 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W322C | c.966G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. Basic Res Cardiol. 2013 108(3):353. doi: 10.1007/s00395-013-0353-1. 23644778 |