No paralogue variants have been mapped to residue 568 for KCNH2.
| KCNH2 | ----SEYGAAV-LFLLMCTFALIAHWLACI>W<YAIGNMEQPHMDSR----IGWLHNLGDQIG | 594 |
| KCNH1 | ----IEYGAAV-LVLLVCVFGLAAHWMACI>W<YSIGDYEIFDEDTKTIRNNSWLYQLAMDIG | 427 |
| KCNH3 | ----SQYSAVV-LTLLMAVFALLAHWVACV>W<FYIGQREIESSESELPE-IGWLQELARRLE | 407 |
| KCNH4 | ----SQCSAVV-LTLLMSVFALLAHWMACI>W<YVIGRREMEANDPLLWD-IGWLHELGKRLE | 409 |
| KCNH5 | ----LEYGAAV-LVLLVCVFGLVAHWLACI>W<YSIGDYEVIDEVTNTIQIDSWLYQLALSIG | 397 |
| KCNH6 | ----SEYGAAV-LFLLMCTFALIAHWLACI>W<YAIGNVERPYLEHK----IGWLDSLGVQLG | 445 |
| KCNH7 | ----SEYGAAV-LMLLMCIFALIAHWLACI>W<YAIGNVERPYLTDK----IGWLDSLGQQIG | 596 |
| KCNH8 | ----SQHSTIV-LTLLMSMFALLAHWMACI>W<YVIGKMEREDNSLLKWE-VGWLHELGKRLE | 403 |
| CNGA1 | ----TNYPNIFRISNLVMYIVIIIHWNACV>F<YSISKAIGFGND-------TWVYPD---IN | 338 |
| CNGA2 | ----TNYPNIFRISNLVLYILVIIHWNACI>Y<YAISKSIGFGVD-------TWVYPN---IT | 313 |
| CNGA3 | ----TNYPNMFRIGNLVLYILIIIHWNACI>Y<FAISKFIGFGTD-------SWVYPN---IS | 341 |
| CNGA4 | ----TAYPNAFRIAKLMLYIFVVIHWNSCL>Y<FALSRYLGFGRD-------AWVYPD---PA | 207 |
| CNGB1 | ----LSKAYVYRVIRTTAYLLYSLHLNSCL>Y<YWASAYQGLGST-------HWVYD------ | 826 |
| CNGB3 | ----MDKAYIYRVIRTTGYLLFILHINACV>Y<YWASNYEGIGTT-------RWVYD------ | 388 |
| HCN1 | HMTYDLASAVVRIFNLIGMMLLLCHWDGCL>Q<FLVPLLQDFPPD-------CWVS-----LN | 334 |
| HCN2 | HMTYDLASAVMRICNLISMMLLLCHWDGCL>Q<FLVPMLQDFPRN-------CWVS-----IN | 403 |
| HCN3 | HMTYDLASAVVRIFNLIGMMLLLCHWDGCL>Q<FLVPMLQDFPPD-------CWVS-----IN | 287 |
| HCN4 | HMTYDLASAVVRIVNLIGMMLLLCHWDGCL>Q<FLVPMLQDFPDD-------CWVS-----IN | 454 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.W568C | c.1704G>T | Inherited Arrhythmia | LQTS | rs199472926 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 | ||
| Inherited Arrhythmia | LQTS | [The long QT syndrome from the bedside to molecular genetic laboratory. The history of the first described Hungarian family]. Orv Hetil. 2005 146(39):2011-6. 16265869 | |||
| Inherited Arrhythmia | LQTS | Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. Genet Med. 2007 9(1):23-33. 17224687 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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.W568R | c.1702T>C | Inherited Arrhythmia | LQTS | rs199472927 | 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 | 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.W568C | c.1704G>C | Inherited Arrhythmia | LQTS | rs199472926 | SIFT: Polyphen: |
| Reports | Inherited Arrhythmia | LQTS | [The long QT syndrome from the bedside to molecular genetic laboratory. The history of the first described Hungarian family]. Orv Hetil. 2005 146(39):2011-6. 16265869 | ||
| Inherited Arrhythmia | LQTS | Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. Genet Med. 2007 9(1):23-33. 17224687 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||