No paralogue variants have been mapped to residue 85 for KCNH2.
| KCNH2 | ------------------------------>A<LL---------------------------G | 88 |
| KCNH1 | ------------------------------>T<FE---------------------------N | 89 |
| KCNH3 | ------------------------------>A<LD---------------------------E | 89 |
| KCNH4 | ------------------------------>A<LE---------------------------G | 89 |
| KCNH5 | ------------------------------>T<FD---------------------------N | 87 |
| KCNH6 | ------------------------------>A<LL---------------------------G | 88 |
| KCNH7 | ------------------------------>A<LL---------------------------G | 88 |
| KCNH8 | ------------------------------>S<LE---------------------------E | 89 |
| CNGA1 | ------------------------------>S<FS---------------------------E | 44 |
| CNGA2 | ------------------------------>P<HS---------------------------A | 41 |
| CNGA3 | ------------------------------>A<HS---------------------------S | 38 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ------------------------------>A<LE---------------------------A | 149 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------SRDDGN>S<VFPAKASATGAGPAAAEKRLGTPPGGGGAG | 49 |
| HCN2 | PPRAEALPPEAADEGGPRGRLRSRDSSCGR>P<GTPGAASTAKGSPNGECGRGEPQCSPAGPE | 115 |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | SPGEDRTPPGLAAEPERPGASAQPAASPPP>P<QQPPQPAS---------------------- | 176 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A85P | c.253G>C | Inherited Arrhythmia | LQTS | rs199472850 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Molecular autopsy in the sudden cardiac death of a young woman: a first Canadian report. Can J Cardiol. 2007 23(11):904-6. 17876385 | ||
| p.A85V | c.254C>T | Inherited Arrhythmia | LQTS | rs199473494 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||