| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | P372S | Colour-blindness, total | High | 9 | 11536077, 20506298 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.
| KCNH2 | LGGPSIKDKYVTALYFTFSSLTSVGFGNVS>P<NTNSEKIFSICVMLIGSLMYASIFGNVSAI | 662 |
| KCNH1 | EGGPSKNSVYISSLYFTMTSLTSVGFGNIA>P<STDIEKIFAVAIMMIGSLLYATIFGNVTTI | 501 |
| KCNH3 | LGGPSLRSAYITSLYFALSSLTSVGFGNVS>A<NTDTEKIFSICTMLIGALMHAVVFGNVTAI | 503 |
| KCNH4 | VGGPSRRSAYIAALYFTLSSLTSVGFGNVC>A<NTDAEKIFSICTMLIGALMHAVVFGNVTAI | 477 |
| KCNH5 | EGGPSKDSLYVSSLYFTMTSLTTIGFGNIA>P<TTDVEKMFSVAMMMVGSLLYATIFGNVTTI | 470 |
| KCNH6 | ASGPSVQDKYVTALYFTFSSLTSVGFGNVS>P<NTNSEKVFSICVMLIGSLMYASIFGNVSAI | 514 |
| KCNH7 | SSGPSIKDKYVTALYFTFSSLTSVGFGNVS>P<NTNSEKIFSICVMLIGSLMYASIFGNVSAI | 665 |
| KCNH8 | LGGPSIRSAYIAALYFTLSSLTSVGFGNVS>A<NTDAEKIFSICTMLIGALMHALVFGNVTAI | 472 |
| CNGA1 | -EFGRLARKYVYSLYWSTLTLTTIG-ETPP>P<VRDSEYVFVVVDFLIGVLIFATIVGNIGSM | 399 |
| CNGA2 | -EYGYLAREYIYCLYWSTLTLTTIG-ETPP>P<VKDEEYLFVIFDFLIGVLIFATIVGNVGSM | 374 |
| CNGA3 | -EHGRLSRKYIYSLYWSTLTLTTIG-ETPP>P<VKDEEYLFVVVDFLVGVLIFATIVGNVGSM | 402 |
| CNGA4 | -GFERLRRQYLYSFYFSTLILTTVG-DTPP>P<AREEEYLFMVGDFLLAVMGFATIMGSMSSV | 268 |
| CNGB1 | ----GVGNSYIRCYYFAVKTLITIG-GLPD>P<KTLFEIVFQLLNYFTGVFAFSVMIGQMRDV | 882 |
| CNGB3 | ----GEGNEYLRCYYWAVRTLITIG-GLPE>P<QTLFEIVFQLLNFFSGVFVFSSLIGQMRDV | 444 |
| HCN1 | -VNDSWGKQYSYALFKAMSHMLCIGYGAQA>P<VSMSDLWITMLSMIVGATCYAMFVGHATAL | 396 |
| HCN2 | -VNHSWSELYSFALFKAMSHMLCIGYGRQA>P<ESMTDIWLTMLSMIVGATCYAMFIGHATAL | 465 |
| HCN3 | -VNHSWGRQYSHALFKAMSHMLCIGYGQQA>P<VGMPDVWLTMLSMIVGATCYAMFIGHATAL | 349 |
| HCN4 | -VNNSWGKQYSYALFKAMSHMLCIGYGRQA>P<VGMSDVWLTMLSMIVGATCYAMFIGHATAL | 516 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P632S | c.1894C>T | Inherited Arrhythmia | LQTS | rs199473527 | 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 | 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.P632A | c.1894C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 | ||