No paralogue variants have been mapped to residue 559 for KCNH2.
| KCNH2 | VARKLDRY-----SEYGAAV-LFLLMCTFA>L<IAHWLACIWYAIGNMEQPHMDSR----IGW | 585 |
| KCNH1 | VARKLDHY-----IEYGAAV-LVLLVCVFG>L<AAHWMACIWYSIGDYEIFDEDTKTIRNNSW | 418 |
| KCNH3 | LLPRLDRY-----SQYSAVV-LTLLMAVFA>L<LAHWVACVWFYIGQREIESSESELPE-IGW | 398 |
| KCNH4 | LLQKLERY-----SQCSAVV-LTLLMSVFA>L<LAHWMACIWYVIGRREMEANDPLLWD-IGW | 400 |
| KCNH5 | VARKLDHY-----LEYGAAV-LVLLVCVFG>L<VAHWLACIWYSIGDYEVIDEVTNTIQIDSW | 388 |
| KCNH6 | VARKLDRY-----SEYGAAV-LFLLMCTFA>L<IAHWLACIWYAIGNVERPYLEHK----IGW | 436 |
| KCNH7 | VARKLDRY-----SEYGAAV-LMLLMCIFA>L<IAHWLACIWYAIGNVERPYLTDK----IGW | 587 |
| KCNH8 | LLQKLDRY-----SQHSTIV-LTLLMSMFA>L<LAHWMACIWYVIGKMEREDNSLLKWE-VGW | 394 |
| CNGA1 | FFQRTETR-----TNYPNIFRISNLVMYIV>I<IIHWNACVFYSISKAIGFGND-------TW | 332 |
| CNGA2 | FFDRTETR-----TNYPNIFRISNLVLYIL>V<IIHWNACIYYAISKSIGFGVD-------TW | 307 |
| CNGA3 | FFDRTETR-----TNYPNMFRIGNLVLYIL>I<IIHWNACIYFAISKFIGFGTD-------SW | 335 |
| CNGA4 | AFDRTETR-----TAYPNAFRIAKLMLYIF>V<VIHWNSCLYFALSRYLGFGRD-------AW | 201 |
| CNGB1 | FNSRLESI-----LSKAYVYRVIRTTAYLL>Y<SLHLNSCLYYWASAYQGLGST-------HW | 823 |
| CNGB3 | FNHHLESI-----MDKAYIYRVIRTTGYLL>F<ILHINACVYYWASNYEGIGTT-------RW | 385 |
| HCN1 | YIHQWEEIFHMTYDLASAVVRIFNLIGMML>L<LCHWDGCLQFLVPLLQDFPPD-------CW | 330 |
| HCN2 | YIHQWEEIFHMTYDLASAVMRICNLISMML>L<LCHWDGCLQFLVPMLQDFPRN-------CW | 399 |
| HCN3 | YIHQWEEIFHMTYDLASAVVRIFNLIGMML>L<LCHWDGCLQFLVPMLQDFPPD-------CW | 283 |
| HCN4 | YIHQWEEIFHMTYDLASAVVRIVNLIGMML>L<LCHWDGCLQFLVPMLQDFPDD-------CW | 450 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L559H | c.1676T>A | Inherited Arrhythmia | LQTS | rs199472920 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002 20(6):475-6. 12442276 | ||
| Inherited Arrhythmia | LQTS | [The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2007 46(10):838-41. 18218237 | |||
| 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.L559F | c.1675C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J. 2016 37(18):1456-64. doi: 10.1093/eurheartj/ehv695. 26715165 | ||
| p.Leu559Phe | c.1675C>T | Unknown | SIFT: Polyphen: | ||