No paralogue variants have been mapped to residue 638 for KCNH2.
| KCNH2 | KDKYVTALYFTFSSLTSVGFGNVSPNTNSE>K<IFSICVMLIGSLMYASIFGNVSAIIQRLYS | 668 |
| KCNH1 | NSVYISSLYFTMTSLTSVGFGNIAPSTDIE>K<IFAVAIMMIGSLLYATIFGNVTTIFQQMYA | 507 |
| KCNH3 | RSAYITSLYFALSSLTSVGFGNVSANTDTE>K<IFSICTMLIGALMHAVVFGNVTAIIQRMYA | 509 |
| KCNH4 | RSAYIAALYFTLSSLTSVGFGNVCANTDAE>K<IFSICTMLIGALMHAVVFGNVTAIIQRMYS | 483 |
| KCNH5 | DSLYVSSLYFTMTSLTTIGFGNIAPTTDVE>K<MFSVAMMMVGSLLYATIFGNVTTIFQQMYA | 476 |
| KCNH6 | QDKYVTALYFTFSSLTSVGFGNVSPNTNSE>K<VFSICVMLIGSLMYASIFGNVSAIIQRLYS | 520 |
| KCNH7 | KDKYVTALYFTFSSLTSVGFGNVSPNTNSE>K<IFSICVMLIGSLMYASIFGNVSAIIQRLYS | 671 |
| KCNH8 | RSAYIAALYFTLSSLTSVGFGNVSANTDAE>K<IFSICTMLIGALMHALVFGNVTAIIQRMYS | 478 |
| CNGA1 | ARKYVYSLYWSTLTLTTIG-ETPPPVRDSE>Y<VFVVVDFLIGVLIFATIVGNIGSMISNMNA | 405 |
| CNGA2 | AREYIYCLYWSTLTLTTIG-ETPPPVKDEE>Y<LFVIFDFLIGVLIFATIVGNVGSMISNMNA | 380 |
| CNGA3 | SRKYIYSLYWSTLTLTTIG-ETPPPVKDEE>Y<LFVVVDFLVGVLIFATIVGNVGSMISNMNA | 408 |
| CNGA4 | RRQYLYSFYFSTLILTTVG-DTPPPAREEE>Y<LFMVGDFLLAVMGFATIMGSMSSVIYNMNT | 274 |
| CNGB1 | GNSYIRCYYFAVKTLITIG-GLPDPKTLFE>I<VFQLLNYFTGVFAFSVMIGQMRDVVGAATA | 888 |
| CNGB3 | GNEYLRCYYWAVRTLITIG-GLPEPQTLFE>I<VFQLLNFFSGVFVFSSLIGQMRDVIGAATA | 450 |
| HCN1 | GKQYSYALFKAMSHMLCIGYGAQAPVSMSD>L<WITMLSMIVGATCYAMFVGHATALIQSLDS | 402 |
| HCN2 | SELYSFALFKAMSHMLCIGYGRQAPESMTD>I<WLTMLSMIVGATCYAMFIGHATALIQSLDS | 471 |
| HCN3 | GRQYSHALFKAMSHMLCIGYGQQAPVGMPD>V<WLTMLSMIVGATCYAMFIGHATALIQSLDS | 355 |
| HCN4 | GKQYSYALFKAMSHMLCIGYGRQAPVGMSD>V<WLTMLSMIVGATCYAMFIGHATALIQSLDS | 522 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K638E | c.1912A>G | Inherited Arrhythmia | LQTS | rs199473528 | SIFT: deleterious Polyphen: probably 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 | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| 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.K638N | c.1914G>T | Inherited Arrhythmia | LQTS | rs199472969 | 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.K638Q | c.1912A>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||
| p.Lys638Arg | c.1913A>G | Unknown | SIFT: Polyphen: | ||