No paralogue variants have been mapped to residue 558 for KCNH2.
| KCNH2 | RVARKLDRY-----SEYGAAV-LFLLMCTF>A<LIAHWLACIWYAIGNMEQPHMDSR----IG | 584 |
| KCNH1 | RVARKLDHY-----IEYGAAV-LVLLVCVF>G<LAAHWMACIWYSIGDYEIFDEDTKTIRNNS | 417 |
| KCNH3 | RLLPRLDRY-----SQYSAVV-LTLLMAVF>A<LLAHWVACVWFYIGQREIESSESELPE-IG | 397 |
| KCNH4 | RLLQKLERY-----SQCSAVV-LTLLMSVF>A<LLAHWMACIWYVIGRREMEANDPLLWD-IG | 399 |
| KCNH5 | RVARKLDHY-----LEYGAAV-LVLLVCVF>G<LVAHWLACIWYSIGDYEVIDEVTNTIQIDS | 387 |
| KCNH6 | RVARKLDRY-----SEYGAAV-LFLLMCTF>A<LIAHWLACIWYAIGNVERPYLEHK----IG | 435 |
| KCNH7 | RVARKLDRY-----SEYGAAV-LMLLMCIF>A<LIAHWLACIWYAIGNVERPYLTDK----IG | 586 |
| KCNH8 | RLLQKLDRY-----SQHSTIV-LTLLMSMF>A<LLAHWMACIWYVIGKMEREDNSLLKWE-VG | 393 |
| CNGA1 | EFFQRTETR-----TNYPNIFRISNLVMYI>V<IIIHWNACVFYSISKAIGFGND-------T | 331 |
| CNGA2 | EFFDRTETR-----TNYPNIFRISNLVLYI>L<VIIHWNACIYYAISKSIGFGVD-------T | 306 |
| CNGA3 | EFFDRTETR-----TNYPNMFRIGNLVLYI>L<IIIHWNACIYFAISKFIGFGTD-------S | 334 |
| CNGA4 | EAFDRTETR-----TAYPNAFRIAKLMLYI>F<VVIHWNSCLYFALSRYLGFGRD-------A | 200 |
| CNGB1 | EFNSRLESI-----LSKAYVYRVIRTTAYL>L<YSLHLNSCLYYWASAYQGLGST-------H | 822 |
| CNGB3 | EFNHHLESI-----MDKAYIYRVIRTTGYL>L<FILHINACVYYWASNYEGIGTT-------R | 384 |
| HCN1 | RYIHQWEEIFHMTYDLASAVVRIFNLIGMM>L<LLCHWDGCLQFLVPLLQDFPPD-------C | 329 |
| HCN2 | RYIHQWEEIFHMTYDLASAVMRICNLISMM>L<LLCHWDGCLQFLVPMLQDFPRN-------C | 398 |
| HCN3 | RYIHQWEEIFHMTYDLASAVVRIFNLIGMM>L<LLCHWDGCLQFLVPMLQDFPPD-------C | 282 |
| HCN4 | RYIHQWEEIFHMTYDLASAVVRIVNLIGMM>L<LLCHWDGCLQFLVPMLQDFPDD-------C | 449 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A558E | c.1673C>A | Inherited Arrhythmia | LQTS | rs199472919 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| 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.A558P | c.1672G>C | Inherited Arrhythmia | LQTS | rs121912516 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999 13(4):301-10. 10220144 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| 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 | |||