No paralogue variants have been mapped to residue 493 for KCNH2.
| KCNH2 | VDI-LINFRTTYVN-ANEEVVSHPGRIAVH>Y<FKGW-FLIDMVAAIPFDLLIFGSGSEE--- | 519 |
| KCNH1 | VDI-VLNFHTTFVG-PAGEVISDPKLIRMN>Y<LKTW-FVIDLLSCLPYDVINAFENVDEVSA | 320 |
| KCNH3 | LDI-VLNFRTTFVS-KSGQVVFAPKSICLH>Y<VTTW-FLLDVIAALPFDLLHAF-KVN---- | 326 |
| KCNH4 | LDI-ILNFRTTYVS-QSGQVISAPRSIGLH>Y<LATW-FFIDLIAALPFDLLYIF-NIT---- | 328 |
| KCNH5 | VDI-VLNFHTTFVG-PGGEVISDPKLIRMN>Y<LKTW-FVIDLLSCLPYDIINAFENVDEG-- | 315 |
| KCNH6 | VDI-VINFRTTYVN-TNDEVVSHPRRIAVH>Y<FKGW-FLIDMVAAIPFDLLIFRTGSDE--- | 367 |
| KCNH7 | IDI-LINFRTTYVN-QNEEVVSDPAKIAIH>Y<FKGW-FLIDMVAAIPFDLLIFGSGSDE--- | 518 |
| KCNH8 | IDI-ILNFRTTYVS-KSGQVIFEARSICIH>Y<VTTW-FIIDLIAALPFDLLYAF-NVT---- | 322 |
| CNGA1 | IDM-FVRTRTGYLE--QGLLVKEELKLINK>Y<KSNLQFKLDVLSLIPTDLLYFKLGWNY--- | 267 |
| CNGA2 | ADL-FIRLRTGFLE--QGLLVKDTKKLRDN>Y<IHTLQFKLDVASIIPTDLIYFAVDIHS--- | 242 |
| CNGA3 | LDV-LVRARTGFLE--QGLMVSDTNRLWQH>Y<KTTTQFKLDVLSLVPTDLAYLKVGTNY--- | 270 |
| CNGA4 | LDM-VVRFHTGFLE--QGILVVDKGRISSR>Y<VRTWSFFLDLASLMPTDVVYVRLGPHT--- | 136 |
| CNGB1 | LDITVFQTRLQFVR--GGDIITDKKDMRNN>Y<LKSRRFKMDLLSLLPLDFLYLKVGVN---- | 758 |
| CNGB3 | YDMLFIQPRLQFVR--GGDIIVDSNELRKH>Y<RTSTKFQLDVASIIPFDICYLFFGFN---- | 320 |
| HCN1 | LDL-IMNFRTGTVNEDSSEIILDPKVIKMN>Y<LKSW-FVVDFISSIPVDYIFLIVEK--GMD | 244 |
| HCN2 | MDL-VLNFRTGIVIEDNTEIILDPEKIKKK>Y<LRTW-FVVDFVSSIPVDYIFLIVEK--GID | 313 |
| HCN3 | LDL-VLNFRTGIVVEEGAEILLAPRAIRTR>Y<LRTW-FLVDLISSIPVDYIFLVVELEPRLD | 197 |
| HCN4 | IDL-VLNFRTGIVVEDNTEIILDPQRIKMK>Y<LKSW-FMVDFISSIPVDYIFLIVET--RID | 364 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y493C | c.1478A>G | Inherited Arrhythmia | LQTS | rs199472911 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004 43(5):826-30. 14998624 | ||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| p.Y493F | c.1478A>T | Inherited Arrhythmia | LQTS | rs199472911 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. Can J Cardiol. 2009 25(8):455-62. 19668779 | ||
| p.Y493S | c.1478A>C | Inherited Arrhythmia | LQTS | rs199472911 | SIFT: deleterious Polyphen: probably damaging |
| 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.Y493H | c.1477T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||