No paralogue variants have been mapped to residue 124 for KCNH2.
| KCNH2 | -----------------PVK---NEDGAVI>M<FILNFEVVMEKDM-VG-------------- | 139 |
| KCNH1 | -----------------PIR---NEQDKVV>L<FLCTFSDITAFKQ-PI-------------- | 140 |
| KCNH3 | -----------------PIK---NEKGEVA>L<FLVSHKDISETK-NRG-------------- | 140 |
| KCNH4 | -----------------PIK---NEMGEVV>L<FLFSFKDITQSGSPGL-------------- | 141 |
| KCNH5 | -----------------PIR---NEHEKVV>L<FLCTFKDITLFKQ-PI-------------- | 138 |
| KCNH6 | -----------------PVK---NEDGAVI>M<FILNFEDLAQL------------------- | 135 |
| KCNH7 | -----------------PVK---NQEGVAM>M<FIINFEYVTDNEN-AA-------------- | 139 |
| KCNH8 | -----------------PIK---NEKGDVV>L<FLASFKDITDTK-VKI-------------- | 140 |
| CNGA1 | -----------------PSQREQYLPGAIA>L<FNVNNSSNKDQ------------------- | 100 |
| CNGA2 | ------------------FRRIVRLVGIIR>E<WANKNFREEEP------------------- | 89 |
| CNGA3 | ------------------IARLSRLIFLLR>R<WAARHVHHQDQ------------------- | 93 |
| CNGA4 | ------------------------------>-<---------DT------------------- | 5 |
| CNGB1 | WVLHRLEMALPQPVLHGKIG---EQEPDSP>G<ICDVQTISILPGG---QVEPDLVLEEVEPP | 312 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------GGGGGGG-GGG------------- | 72 |
| HCN2 | ------------------------------>-<------GAASGPA-PGP------------- | 138 |
| HCN3 | ------------------------------>-<------TAASGPI-PKS------------- | 40 |
| HCN4 | ------------------------------>-<------QPSVDTA-IKV------------- | 190 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M124R | c.371T>G | Inherited Arrhythmia | LQTS | rs199472862 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | 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 | Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome. Ann Noninvasive Electrocardiol. 2005 10(3):334-41. 16029385 | |||
| 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 | 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 | |||
| p.M124T | c.371T>C | Inherited Arrhythmia | LQTS | rs199472862 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Probucol aggravates long QT syndrome associated with a novel missense mutation M124T in the N-terminus of HERG. Clin Sci (Lond). 2004 107(2):175-82. 15043509 | ||
| Inherited Arrhythmia | LQTS | Long QT syndrome and associated gene mutation carriers in Japanese children: results from ECG screening examinations. Clin Sci (Lond). 2009 117(12):415-24. 19371231 | |||
| 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 | |||