No paralogue variants have been mapped to residue 86 for KCNH2.
| KCNH2 | -----------------------------A>L<L---------------------------GA | 89 |
| KCNH1 | -----------------------------T>F<E---------------------------NY | 90 |
| KCNH3 | -----------------------------A>L<D---------------------------EH | 90 |
| KCNH4 | -----------------------------A>L<E---------------------------GH | 90 |
| KCNH5 | -----------------------------T>F<D---------------------------NY | 88 |
| KCNH6 | -----------------------------A>L<L---------------------------GA | 89 |
| KCNH7 | -----------------------------A>L<L---------------------------GS | 89 |
| KCNH8 | -----------------------------S>L<E---------------------------EK | 90 |
| CNGA1 | -----------------------------S>F<S---------------------------ED | 45 |
| CNGA2 | -----------------------------P>H<S---------------------------AA | 42 |
| CNGA3 | -----------------------------A>H<S---------------------------SS | 39 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | -----------------------------A>L<E---------------------------AQ | 150 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | -----------------------SRDDGNS>V<FPAKASATGAGPAAAEKRLGTPPGGGGAGA | 50 |
| HCN2 | PRAEALPPEAADEGGPRGRLRSRDSSCGRP>G<TPGAASTAKGSPNGECGRGEPQCSPAGPEG | 116 |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | PGEDRTPPGLAAEPERPGASAQPAASPPPP>Q<QPPQPAS----------------------- | 176 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L86P | c.257T>C | Inherited Arrhythmia | LQTS | rs199472851 | 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 | ||
| 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 | |||
| p.L86R | c.257T>G | Inherited Arrhythmia | LQTS | rs199472851 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J Biol Chem. 1999 274(15):10113-8. 10187793 | ||
| Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | |||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Inherited Arrhythmia | LQTS | Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-รก-go-go-related gene potassium channels. J Biol Chem. 2011 286(25):22160-9. 21536673 | |||
| Inherited Arrhythmia | LQTS | Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel. PLoS One. 2012 7(3):e32654. 22396785 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| 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 | |||