No paralogue variants have been mapped to residue 649 for KCNH2.
| KCNH2 | FSSLTSVGFGNVSPNTNSEKIFSICVMLIG>S<LMYASIFGNVSAIIQRLYSGTARYHTQMLR | 679 |
| KCNH1 | MTSLTSVGFGNIAPSTDIEKIFAVAIMMIG>S<LLYATIFGNVTTIFQQMYANTNRYHEMLNS | 518 |
| KCNH3 | LSSLTSVGFGNVSANTDTEKIFSICTMLIG>A<LMHAVVFGNVTAIIQRMYARRFLYHSRTRD | 520 |
| KCNH4 | LSSLTSVGFGNVCANTDAEKIFSICTMLIG>A<LMHAVVFGNVTAIIQRMYSRRSLYHSRMKD | 494 |
| KCNH5 | MTSLTTIGFGNIAPTTDVEKMFSVAMMMVG>S<LLYATIFGNVTTIFQQMYANTNRYHEMLNN | 487 |
| KCNH6 | FSSLTSVGFGNVSPNTNSEKVFSICVMLIG>S<LMYASIFGNVSAIIQRLYSGTARYHTQMLR | 531 |
| KCNH7 | FSSLTSVGFGNVSPNTNSEKIFSICVMLIG>S<LMYASIFGNVSAIIQRLYSGTARYHMQMLR | 682 |
| KCNH8 | LSSLTSVGFGNVSANTDAEKIFSICTMLIG>A<LMHALVFGNVTAIIQRMYSRWSLYHTRTKD | 489 |
| CNGA1 | TLTLTTIG-ETPPPVRDSEYVFVVVDFLIG>V<LIFATIVGNIGSMISNMNAARAEFQARIDA | 416 |
| CNGA2 | TLTLTTIG-ETPPPVKDEEYLFVIFDFLIG>V<LIFATIVGNVGSMISNMNATRAEFQAKIDA | 391 |
| CNGA3 | TLTLTTIG-ETPPPVKDEEYLFVVVDFLVG>V<LIFATIVGNVGSMISNMNASRAEFQAKIDS | 419 |
| CNGA4 | TLILTTVG-DTPPPAREEEYLFMVGDFLLA>V<MGFATIMGSMSSVIYNMNTADAAFYPDHAL | 285 |
| CNGB1 | VKTLITIG-GLPDPKTLFEIVFQLLNYFTG>V<FAFSVMIGQMRDVVGAATAGQTYYRSCMDS | 899 |
| CNGB3 | VRTLITIG-GLPEPQTLFEIVFQLLNFFSG>V<FVFSSLIGQMRDVIGAATANQNYFRACMDD | 461 |
| HCN1 | MSHMLCIGYGAQAPVSMSDLWITMLSMIVG>A<TCYAMFVGHATALIQSLDSSRRQYQEKYKQ | 413 |
| HCN2 | MSHMLCIGYGRQAPESMTDIWLTMLSMIVG>A<TCYAMFIGHATALIQSLDSSRRQYQEKYKQ | 482 |
| HCN3 | MSHMLCIGYGQQAPVGMPDVWLTMLSMIVG>A<TCYAMFIGHATALIQSLDSSRRQYQEKYKQ | 366 |
| HCN4 | MSHMLCIGYGRQAPVGMSDVWLTMLSMIVG>A<TCYAMFIGHATALIQSLDSSRRQYQEKYKQ | 533 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S649L | c.1946C>T | Inherited Arrhythmia | LQTS | rs199472976 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| p.S649P | c.1945T>C | Inherited Arrhythmia | LQTS | rs199473530 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | 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 | |||