No paralogue variants have been mapped to residue 637 for KCNH2.
| KCNH2 | IKDKYVTALYFTFSSLTSVGFGNVSPNTNS>E<KIFSICVMLIGSLMYASIFGNVSAIIQRLY | 667 |
| KCNH1 | KNSVYISSLYFTMTSLTSVGFGNIAPSTDI>E<KIFAVAIMMIGSLLYATIFGNVTTIFQQMY | 506 |
| KCNH3 | LRSAYITSLYFALSSLTSVGFGNVSANTDT>E<KIFSICTMLIGALMHAVVFGNVTAIIQRMY | 508 |
| KCNH4 | RRSAYIAALYFTLSSLTSVGFGNVCANTDA>E<KIFSICTMLIGALMHAVVFGNVTAIIQRMY | 482 |
| KCNH5 | KDSLYVSSLYFTMTSLTTIGFGNIAPTTDV>E<KMFSVAMMMVGSLLYATIFGNVTTIFQQMY | 475 |
| KCNH6 | VQDKYVTALYFTFSSLTSVGFGNVSPNTNS>E<KVFSICVMLIGSLMYASIFGNVSAIIQRLY | 519 |
| KCNH7 | IKDKYVTALYFTFSSLTSVGFGNVSPNTNS>E<KIFSICVMLIGSLMYASIFGNVSAIIQRLY | 670 |
| KCNH8 | IRSAYIAALYFTLSSLTSVGFGNVSANTDA>E<KIFSICTMLIGALMHALVFGNVTAIIQRMY | 477 |
| CNGA1 | LARKYVYSLYWSTLTLTTIG-ETPPPVRDS>E<YVFVVVDFLIGVLIFATIVGNIGSMISNMN | 404 |
| CNGA2 | LAREYIYCLYWSTLTLTTIG-ETPPPVKDE>E<YLFVIFDFLIGVLIFATIVGNVGSMISNMN | 379 |
| CNGA3 | LSRKYIYSLYWSTLTLTTIG-ETPPPVKDE>E<YLFVVVDFLVGVLIFATIVGNVGSMISNMN | 407 |
| CNGA4 | LRRQYLYSFYFSTLILTTVG-DTPPPAREE>E<YLFMVGDFLLAVMGFATIMGSMSSVIYNMN | 273 |
| CNGB1 | VGNSYIRCYYFAVKTLITIG-GLPDPKTLF>E<IVFQLLNYFTGVFAFSVMIGQMRDVVGAAT | 887 |
| CNGB3 | EGNEYLRCYYWAVRTLITIG-GLPEPQTLF>E<IVFQLLNFFSGVFVFSSLIGQMRDVIGAAT | 449 |
| HCN1 | WGKQYSYALFKAMSHMLCIGYGAQAPVSMS>D<LWITMLSMIVGATCYAMFVGHATALIQSLD | 401 |
| HCN2 | WSELYSFALFKAMSHMLCIGYGRQAPESMT>D<IWLTMLSMIVGATCYAMFIGHATALIQSLD | 470 |
| HCN3 | WGRQYSHALFKAMSHMLCIGYGQQAPVGMP>D<VWLTMLSMIVGATCYAMFIGHATALIQSLD | 354 |
| HCN4 | WGKQYSYALFKAMSHMLCIGYGRQAPVGMS>D<VWLTMLSMIVGATCYAMFIGHATALIQSLD | 521 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E637D | c.1911G>C | Inherited Arrhythmia | LQTS | rs199472966 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| 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 | 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.E637G | c.1910A>G | Inherited Arrhythmia | LQTS | rs199472967 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome. Heart Rhythm. 2011 8(3):463-70. 21109023 | ||
| 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.E637K | c.1909G>A | Inherited Arrhythmia | LQTS | rs199472968 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. Cardiovasc Res. 2002 54(1):67-76. 12062363 | ||
| 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 | |||