No paralogue variants have been mapped to residue 630 for KCNH2.
| KCNH2 | --LGGPSIKDKYVTALYFTFSSLTSVGFGN>V<SPNTNSEKIFSICVMLIGSLMYASIFGNVS | 660 |
| KCNH1 | -WEGGPSKNSVYISSLYFTMTSLTSVGFGN>I<APSTDIEKIFAVAIMMIGSLLYATIFGNVT | 499 |
| KCNH3 | ELLGGPSLRSAYITSLYFALSSLTSVGFGN>V<SANTDTEKIFSICTMLIGALMHAVVFGNVT | 501 |
| KCNH4 | -SVGGPSRRSAYIAALYFTLSSLTSVGFGN>V<CANTDAEKIFSICTMLIGALMHAVVFGNVT | 475 |
| KCNH5 | -WEGGPSKDSLYVSSLYFTMTSLTTIGFGN>I<APTTDVEKMFSVAMMMVGSLLYATIFGNVT | 468 |
| KCNH6 | --ASGPSVQDKYVTALYFTFSSLTSVGFGN>V<SPNTNSEKVFSICVMLIGSLMYASIFGNVS | 512 |
| KCNH7 | --SSGPSIKDKYVTALYFTFSSLTSVGFGN>V<SPNTNSEKIFSICVMLIGSLMYASIFGNVS | 663 |
| KCNH8 | -TLGGPSIRSAYIAALYFTLSSLTSVGFGN>V<SANTDAEKIFSICTMLIGALMHALVFGNVT | 470 |
| CNGA1 | ---EFGRLARKYVYSLYWSTLTLTTIG-ET>P<PPVRDSEYVFVVVDFLIGVLIFATIVGNIG | 397 |
| CNGA2 | ---EYGYLAREYIYCLYWSTLTLTTIG-ET>P<PPVKDEEYLFVIFDFLIGVLIFATIVGNVG | 372 |
| CNGA3 | ---EHGRLSRKYIYSLYWSTLTLTTIG-ET>P<PPVKDEEYLFVVVDFLVGVLIFATIVGNVG | 400 |
| CNGA4 | ---GFERLRRQYLYSFYFSTLILTTVG-DT>P<PPAREEEYLFMVGDFLLAVMGFATIMGSMS | 266 |
| CNGB1 | ------GVGNSYIRCYYFAVKTLITIG-GL>P<DPKTLFEIVFQLLNYFTGVFAFSVMIGQMR | 880 |
| CNGB3 | ------GEGNEYLRCYYWAVRTLITIG-GL>P<EPQTLFEIVFQLLNFFSGVFVFSSLIGQMR | 442 |
| HCN1 | ---VNDSWGKQYSYALFKAMSHMLCIGYGA>Q<APVSMSDLWITMLSMIVGATCYAMFVGHAT | 394 |
| HCN2 | ---VNHSWSELYSFALFKAMSHMLCIGYGR>Q<APESMTDIWLTMLSMIVGATCYAMFIGHAT | 463 |
| HCN3 | ---VNHSWGRQYSHALFKAMSHMLCIGYGQ>Q<APVGMPDVWLTMLSMIVGATCYAMFIGHAT | 347 |
| HCN4 | ---VNNSWGKQYSYALFKAMSHMLCIGYGR>Q<APVGMSDVWLTMLSMIVGATCYAMFIGHAT | 514 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V630A | c.1889T>C | Inherited Arrhythmia | LQTS | rs199473526 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036 | ||
| 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 | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | [Electrophysiological characterization of long QT syndrome associated mutations V630A and N633S]. Zhonghua Xin Xue Guan Bing Za Zhi. 2006 34(6):523-7. 16842670 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.V630L | c.1888G>C | Inherited Arrhythmia | LQTS | rs199472958 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139 | ||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.V630I | c.1888G>A | Putative Benign | rs199472958 | SIFT: deleterious Polyphen: probably damaging | |