No paralogue variants have been mapped to residue 490 for KCNH2.
| KCNH2 | MFIVDI-LINFRTTYVN-ANEEVVSHPGRI>A<VHYFKGW-FLIDMVAAIPFDLLIFGSGSEE | 519 |
| KCNH1 | IFLVDI-VLNFHTTFVG-PAGEVISDPKLI>R<MNYLKTW-FVIDLLSCLPYDVINAFENVDE | 317 |
| KCNH3 | LFILDI-VLNFRTTFVS-KSGQVVFAPKSI>C<LHYVTTW-FLLDVIAALPFDLLHAF-KVN- | 326 |
| KCNH4 | LFILDI-ILNFRTTYVS-QSGQVISAPRSI>G<LHYLATW-FFIDLIAALPFDLLYIF-NIT- | 328 |
| KCNH5 | IFLVDI-VLNFHTTFVG-PGGEVISDPKLI>R<MNYLKTW-FVIDLLSCLPYDIINAFENVDE | 314 |
| KCNH6 | MFVVDI-VINFRTTYVN-TNDEVVSHPRRI>A<VHYFKGW-FLIDMVAAIPFDLLIFRTGSDE | 367 |
| KCNH7 | MFIIDI-LINFRTTYVN-QNEEVVSDPAKI>A<IHYFKGW-FLIDMVAAIPFDLLIFGSGSDE | 518 |
| KCNH8 | LFIIDI-ILNFRTTYVS-KSGQVIFEARSI>C<IHYVTTW-FIIDLIAALPFDLLYAF-NVT- | 322 |
| CNGA1 | VYLIDM-FVRTRTGYLE--QGLLVKEELKL>I<NKYKSNLQFKLDVLSLIPTDLLYFKLGWNY | 267 |
| CNGA2 | VYIADL-FIRLRTGFLE--QGLLVKDTKKL>R<DNYIHTLQFKLDVASIIPTDLIYFAVDIHS | 242 |
| CNGA3 | LYVLDV-LVRARTGFLE--QGLMVSDTNRL>W<QHYKTTTQFKLDVLSLVPTDLAYLKVGTNY | 270 |
| CNGA4 | LYLLDM-VVRFHTGFLE--QGILVVDKGRI>S<SRYVRTWSFFLDLASLMPTDVVYVRLGPHT | 136 |
| CNGB1 | IYFLDITVFQTRLQFVR--GGDIITDKKDM>R<NNYLKSRRFKMDLLSLLPLDFLYLKVGVN- | 758 |
| CNGB3 | IYLYDMLFIQPRLQFVR--GGDIIVDSNEL>R<KHYRTSTKFQLDVASIIPFDICYLFFGFN- | 320 |
| HCN1 | VFLLDL-IMNFRTGTVNEDSSEIILDPKVI>K<MNYLKSW-FVVDFISSIPVDYIFLIVEK-- | 241 |
| HCN2 | FFLMDL-VLNFRTGIVIEDNTEIILDPEKI>K<KKYLRTW-FVVDFVSSIPVDYIFLIVEK-- | 310 |
| HCN3 | FFLLDL-VLNFRTGIVVEEGAEILLAPRAI>R<TRYLRTW-FLVDLISSIPVDYIFLVVELEP | 194 |
| HCN4 | FFLIDL-VLNFRTGIVVEDNTEIILDPQRI>K<MKYLKSW-FMVDFISSIPVDYIFLIVET-- | 361 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A490P | c.1468G>C | Inherited Arrhythmia | LQTS | rs28928905 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome. Am J Cardiol. 2007 99(12):1737-40. 17560885 | ||
| p.A490T | c.1468G>A | Inherited Arrhythmia | LQTS | rs28928905 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG. Am J Med Genet. 2001 98(4):348-52. 11170080 | ||
| Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | |||
| Inherited Arrhythmia | LQTS | Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. BMC Med Genet. 2008 9:87. 18808722 | |||
| 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 | Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. Circ J. 2010 74(12):2562-71. 20975234 | |||
| 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 | |||