No paralogue variants have been mapped to residue 102 for KCNH2.
| KCNH2 | -R-------KVE-IAFYRK----------->D<GS--------------------CFLCLVDV | 112 |
| KCNH1 | -N-------SFE-ILMYKK----------->N<RT--------------------PVWFFVKI | 113 |
| KCNH3 | -F-------KAE-LILYRK----------->S<GL--------------------PFWCLLDV | 113 |
| KCNH4 | -H-------RAE-ICFYRK----------->D<GS--------------------AFWCLLDM | 113 |
| KCNH5 | -N-------CFE-VLLYKK----------->N<RT--------------------PVWFYMQI | 111 |
| KCNH6 | -C-------KVD-ILYYRK----------->D<AS--------------------SFRCLVDV | 112 |
| KCNH7 | -R-------KVE-VTYYHK----------->N<GS--------------------TFICNTHI | 112 |
| KCNH8 | -F-------KGE-IMFYKK----------->N<GS--------------------PFWCLLDI | 113 |
| CNGA1 | -SASTSEESENEN-PHA-R----------->G<SF--------------------SYKSLRKG | 74 |
| CNGA2 | DTSSE---------LQR-L----------->A<DV--------------------D-APQQGR | 63 |
| CNGA3 | -TSSVLQPGIAME-TRG-L----------->A<DS--------------------GQGSFTGQ | 68 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | -R-------PGLRLLLWLEQNLERVLPQPP>K<SSEVWRDEPAVATGAASDPAPPGRPQEMGP | 205 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | -H-------GNS-VCFKVD----------->-<------------------------------ | 62 |
| HCN2 | -R-------GPK-VSFSCR----------->-<------------------------------ | 128 |
| HCN3 | --------------APPPA----------->-<------------------------------ | 30 |
| HCN4 | ---------------ASCE----------->-<------------------------------ | 180 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D102A | c.305A>C | Inherited Arrhythmia | LQTS | rs199472857 | SIFT: deleterious Polyphen: benign |
| Reports | 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 | ||
| p.D102V | c.305A>T | Inherited Arrhythmia | LQTS | rs199472857 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | ||
| Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
| p.D102H | c.304G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | ||