No paralogue variants have been mapped to residue 634 for KCNH2.
| KCNH2 | GPSIKDKYVTALYFTFSSLTSVGFGNVSPN>T<NSEKIFSICVMLIGSLMYASIFGNVSAIIQ | 664 |
| KCNH1 | GPSKNSVYISSLYFTMTSLTSVGFGNIAPS>T<DIEKIFAVAIMMIGSLLYATIFGNVTTIFQ | 503 |
| KCNH3 | GPSLRSAYITSLYFALSSLTSVGFGNVSAN>T<DTEKIFSICTMLIGALMHAVVFGNVTAIIQ | 505 |
| KCNH4 | GPSRRSAYIAALYFTLSSLTSVGFGNVCAN>T<DAEKIFSICTMLIGALMHAVVFGNVTAIIQ | 479 |
| KCNH5 | GPSKDSLYVSSLYFTMTSLTTIGFGNIAPT>T<DVEKMFSVAMMMVGSLLYATIFGNVTTIFQ | 472 |
| KCNH6 | GPSVQDKYVTALYFTFSSLTSVGFGNVSPN>T<NSEKVFSICVMLIGSLMYASIFGNVSAIIQ | 516 |
| KCNH7 | GPSIKDKYVTALYFTFSSLTSVGFGNVSPN>T<NSEKIFSICVMLIGSLMYASIFGNVSAIIQ | 667 |
| KCNH8 | GPSIRSAYIAALYFTLSSLTSVGFGNVSAN>T<DAEKIFSICTMLIGALMHALVFGNVTAIIQ | 474 |
| CNGA1 | FGRLARKYVYSLYWSTLTLTTIG-ETPPPV>R<DSEYVFVVVDFLIGVLIFATIVGNIGSMIS | 401 |
| CNGA2 | YGYLAREYIYCLYWSTLTLTTIG-ETPPPV>K<DEEYLFVIFDFLIGVLIFATIVGNVGSMIS | 376 |
| CNGA3 | HGRLSRKYIYSLYWSTLTLTTIG-ETPPPV>K<DEEYLFVVVDFLVGVLIFATIVGNVGSMIS | 404 |
| CNGA4 | FERLRRQYLYSFYFSTLILTTVG-DTPPPA>R<EEEYLFMVGDFLLAVMGFATIMGSMSSVIY | 270 |
| CNGB1 | --GVGNSYIRCYYFAVKTLITIG-GLPDPK>T<LFEIVFQLLNYFTGVFAFSVMIGQMRDVVG | 884 |
| CNGB3 | --GEGNEYLRCYYWAVRTLITIG-GLPEPQ>T<LFEIVFQLLNFFSGVFVFSSLIGQMRDVIG | 446 |
| HCN1 | NDSWGKQYSYALFKAMSHMLCIGYGAQAPV>S<MSDLWITMLSMIVGATCYAMFVGHATALIQ | 398 |
| HCN2 | NHSWSELYSFALFKAMSHMLCIGYGRQAPE>S<MTDIWLTMLSMIVGATCYAMFIGHATALIQ | 467 |
| HCN3 | NHSWGRQYSHALFKAMSHMLCIGYGQQAPV>G<MPDVWLTMLSMIVGATCYAMFIGHATALIQ | 351 |
| HCN4 | NNSWGKQYSYALFKAMSHMLCIGYGRQAPV>G<MSDVWLTMLSMIVGATCYAMFIGHATALIQ | 518 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T634I | c.1901C>T | Inherited Arrhythmia | LQTS | rs199472962 | 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 | ||
| 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.T634A | c.1900A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352 | ||