No paralogue variants have been mapped to residue 318 for KCNJ2.
| KCNJ2 | -NADFEIVVILEGMVEATAMTTQCRSSYLA>N<EILWGHRYEPVLFEE-KHYYKVDYSRFHKT | 347 |
| KCNJ1 | -QQDFELVVFLDGTVESTSATCQVRTSYVP>E<EVLWGYRFAPIVSKTKEGKYRVDFHNFSKT | 347 |
| KCNJ3 | -TEQFEIVVILEGIVETTGMTCQARTSYTE>D<EVLWGHRFFPVISLE-EGFFKVDYSQFHAT | 348 |
| KCNJ4 | -SEDFEIVVILEGMVEATAMTTQARSSYLA>S<EILWGHRFEPVVFEE-KSHYKVDYSRFHKT | 339 |
| KCNJ5 | -QEEFEVVVILEGMVEATGMTCQARSSYMD>T<EVLWGHRFTPVLTLE-KGFYEVDYNTFHDT | 354 |
| KCNJ6 | -KEELEIVVILEGMVEATGMTCQARSSYIT>S<EILWGYRFTPVLTLE-DGFYEVDYNSFHET | 357 |
| KCNJ8 | -NQDLEVIVILEGVVETTGITTQARTSYIA>E<EIQWGHRFVSIVTEE-EGVYSVDYSKFGNT | 345 |
| KCNJ9 | -RDDFEIVVILEGMVEATGMTCQARSSYLV>D<EVLWGHRFTSVLTLE-DGFYEVDYASFHET | 325 |
| KCNJ10 | -EGDFELVLILSGTVESTSATCQVRTSYLP>E<EILWGYEFTPAISLSASGKYIADFSLFDQV | 333 |
| KCNJ11 | HHQDLEIIVILEGVVETTGITTQARTSYLA>D<EILWGQRFVPIVAEE-DGRYSVDYSKFGNT | 336 |
| KCNJ12 | -TDDFEIVVILEGMVEATAMTTQARSSYLA>N<EILWGHRFEPVLFEE-KNQYKIDYSHFHKT | 348 |
| KCNJ13 | -PSHFELVVFLSAMQEGTGEICQRRTSYLP>S<EIMLHHCFASLLTRGSKGEYQIKMENFDKT | 321 |
| KCNJ14 | -RADFELVVILEGMVEATAMTTQCRSSYLP>G<ELLWGHRFEPVLFQR-GSQYEVDYRHFHRT | 352 |
| KCNJ15 | -EKEFELVVLLNATVESTSAVCQSRTSYIP>E<EIYWGFEFVPVVSLSKNGKYVADFSQFEQI | 333 |
| KCNJ16 | -KDNFEILVTFIYTGDSTGTSHQSRSSYVP>R<EILWGHRFNDVLEVK-RKYYKVNCLQFEGS | 331 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N318S | c.953A>G | Inherited Arrhythmia | LQTS | rs367560052 | SIFT: tolerated Polyphen: benign |
| 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 | ||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||