No paralogue variants have been mapped to residue 571 for KCNH2.
| KCNH2 | -SEYGAAV-LFLLMCTFALIAHWLACIWYA>I<GNMEQPHMDSR----IGWLHNLGDQIGKPY | 597 |
| KCNH1 | -IEYGAAV-LVLLVCVFGLAAHWMACIWYS>I<GDYEIFDEDTKTIRNNSWLYQLAMDIGTPY | 430 |
| KCNH3 | -SQYSAVV-LTLLMAVFALLAHWVACVWFY>I<GQREIESSESELPE-IGWLQELARRLETPY | 410 |
| KCNH4 | -SQCSAVV-LTLLMSVFALLAHWMACIWYV>I<GRREMEANDPLLWD-IGWLHELGKRLEVPY | 412 |
| KCNH5 | -LEYGAAV-LVLLVCVFGLVAHWLACIWYS>I<GDYEVIDEVTNTIQIDSWLYQLALSIGTPY | 400 |
| KCNH6 | -SEYGAAV-LFLLMCTFALIAHWLACIWYA>I<GNVERPYLEHK----IGWLDSLGVQLGKRY | 448 |
| KCNH7 | -SEYGAAV-LMLLMCIFALIAHWLACIWYA>I<GNVERPYLTDK----IGWLDSLGQQIGKRY | 599 |
| KCNH8 | -SQHSTIV-LTLLMSMFALLAHWMACIWYV>I<GKMEREDNSLLKWE-VGWLHELGKRLESPY | 406 |
| CNGA1 | -TNYPNIFRISNLVMYIVIIIHWNACVFYS>I<SKAIGFGND-------TWVYPD---INDP- | 340 |
| CNGA2 | -TNYPNIFRISNLVLYILVIIHWNACIYYA>I<SKSIGFGVD-------TWVYPN---ITDP- | 315 |
| CNGA3 | -TNYPNMFRIGNLVLYILIIIHWNACIYFA>I<SKFIGFGTD-------SWVYPN---ISIP- | 343 |
| CNGA4 | -TAYPNAFRIAKLMLYIFVVIHWNSCLYFA>L<SRYLGFGRD-------AWVYPD---PAQP- | 209 |
| CNGB1 | -LSKAYVYRVIRTTAYLLYSLHLNSCLYYW>A<SAYQGLGST-------HWVYD--------- | 826 |
| CNGB3 | -MDKAYIYRVIRTTGYLLFILHINACVYYW>A<SNYEGIGTT-------RWVYD--------- | 388 |
| HCN1 | YDLASAVVRIFNLIGMMLLLCHWDGCLQFL>V<PLLQDFPPD-------CWVS-----LNEM- | 336 |
| HCN2 | YDLASAVMRICNLISMMLLLCHWDGCLQFL>V<PMLQDFPRN-------CWVS-----INGM- | 405 |
| HCN3 | YDLASAVVRIFNLIGMMLLLCHWDGCLQFL>V<PMLQDFPPD-------CWVS-----INHM- | 289 |
| HCN4 | YDLASAVVRIVNLIGMMLLLCHWDGCLQFL>V<PMLQDFPDD-------CWVS-----INNM- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I571L | c.1711A>C | Inherited Arrhythmia | LQTS | rs199472928 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | 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.I571V | c.1711A>G | Inherited Arrhythmia | LQTS | rs199472928 | 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.I571M | c.1713C>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 | ||