No paralogue variants have been mapped to residue 645 for KCNH2.
| KCNH2 | LYFTFSSLTSVGFGNVSPNTNSEKIFSICV>M<LIGSLMYASIFGNVSAIIQRLYSGTARYHT | 675 |
| KCNH1 | LYFTMTSLTSVGFGNIAPSTDIEKIFAVAI>M<MIGSLLYATIFGNVTTIFQQMYANTNRYHE | 514 |
| KCNH3 | LYFALSSLTSVGFGNVSANTDTEKIFSICT>M<LIGALMHAVVFGNVTAIIQRMYARRFLYHS | 516 |
| KCNH4 | LYFTLSSLTSVGFGNVCANTDAEKIFSICT>M<LIGALMHAVVFGNVTAIIQRMYSRRSLYHS | 490 |
| KCNH5 | LYFTMTSLTTIGFGNIAPTTDVEKMFSVAM>M<MVGSLLYATIFGNVTTIFQQMYANTNRYHE | 483 |
| KCNH6 | LYFTFSSLTSVGFGNVSPNTNSEKVFSICV>M<LIGSLMYASIFGNVSAIIQRLYSGTARYHT | 527 |
| KCNH7 | LYFTFSSLTSVGFGNVSPNTNSEKIFSICV>M<LIGSLMYASIFGNVSAIIQRLYSGTARYHM | 678 |
| KCNH8 | LYFTLSSLTSVGFGNVSANTDAEKIFSICT>M<LIGALMHALVFGNVTAIIQRMYSRWSLYHT | 485 |
| CNGA1 | LYWSTLTLTTIG-ETPPPVRDSEYVFVVVD>F<LIGVLIFATIVGNIGSMISNMNAARAEFQA | 412 |
| CNGA2 | LYWSTLTLTTIG-ETPPPVKDEEYLFVIFD>F<LIGVLIFATIVGNVGSMISNMNATRAEFQA | 387 |
| CNGA3 | LYWSTLTLTTIG-ETPPPVKDEEYLFVVVD>F<LVGVLIFATIVGNVGSMISNMNASRAEFQA | 415 |
| CNGA4 | FYFSTLILTTVG-DTPPPAREEEYLFMVGD>F<LLAVMGFATIMGSMSSVIYNMNTADAAFYP | 281 |
| CNGB1 | YYFAVKTLITIG-GLPDPKTLFEIVFQLLN>Y<FTGVFAFSVMIGQMRDVVGAATAGQTYYRS | 895 |
| CNGB3 | YYWAVRTLITIG-GLPEPQTLFEIVFQLLN>F<FSGVFVFSSLIGQMRDVIGAATANQNYFRA | 457 |
| HCN1 | LFKAMSHMLCIGYGAQAPVSMSDLWITMLS>M<IVGATCYAMFVGHATALIQSLDSSRRQYQE | 409 |
| HCN2 | LFKAMSHMLCIGYGRQAPESMTDIWLTMLS>M<IVGATCYAMFIGHATALIQSLDSSRRQYQE | 478 |
| HCN3 | LFKAMSHMLCIGYGQQAPVGMPDVWLTMLS>M<IVGATCYAMFIGHATALIQSLDSSRRQYQE | 362 |
| HCN4 | LFKAMSHMLCIGYGRQAPVGMSDVWLTMLS>M<IVGATCYAMFIGHATALIQSLDSSRRQYQE | 529 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M645I | c.1935G>A | Inherited Arrhythmia | LQTS | rs199472973 | 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.M645L | c.1933A>T | Inherited Arrhythmia | LQTS | rs199472974 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | 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 | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | |||
| p.M645V | c.1933A>G | Inherited Arrhythmia | LQTS | rs199472974 | 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 | ||
| p.M645L | c.1933A>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||
| 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.M645R | c.1934T>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Coexisting mutations/polymorphisms of the long QT syndrome genes in patients with repaired Tetralogy of Fallot are associated with the risks of life-threatening events. Hum Genet. 2012 131(8):1295-304. doi: 10.1007/s00439-012-1156-4. 22407026 | |||