No paralogue variants have been mapped to residue 582 for KCNH2.
| KCNH2 | LLMCTFALIAHWLACIWYAIGNMEQPHMDS>R<----IGWLHNLGDQIGKPYNSS-------- | 600 |
| KCNH1 | LLVCVFGLAAHWMACIWYSIGDYEIFDEDT>K<TIRNNSWLYQLAMDIGTPYQFN-------- | 433 |
| KCNH3 | LLMAVFALLAHWVACVWFYIGQREIESSES>E<LPE-IGWLQELARRLETPYYLVGRRPAGGN | 421 |
| KCNH4 | LLMSVFALLAHWMACIWYVIGRREMEANDP>L<LWD-IGWLHELGKRLEVPYVNG-------- | 415 |
| KCNH5 | LLVCVFGLVAHWLACIWYSIGDYEVIDEVT>N<TIQIDSWLYQLALSIGTPYRYN-------- | 403 |
| KCNH6 | LLMCTFALIAHWLACIWYAIGNVERPYLEH>K<----IGWLDSLGVQLGKRYNGS-------- | 451 |
| KCNH7 | LLMCIFALIAHWLACIWYAIGNVERPYLTD>K<----IGWLDSLGQQIGKRYNDS-------- | 602 |
| KCNH8 | LLMSMFALLAHWMACIWYVIGKMEREDNSL>L<KWE-VGWLHELGKRLESPYYGNN------- | 410 |
| CNGA1 | NLVMYIVIIIHWNACVFYSISKAIGFGND->-<-----TWVYPD---INDP------------ | 340 |
| CNGA2 | NLVLYILVIIHWNACIYYAISKSIGFGVD->-<-----TWVYPN---ITDP------------ | 315 |
| CNGA3 | NLVLYILIIIHWNACIYFAISKFIGFGTD->-<-----SWVYPN---ISIP------------ | 343 |
| CNGA4 | KLMLYIFVVIHWNSCLYFALSRYLGFGRD->-<-----AWVYPD---PAQP------------ | 209 |
| CNGB1 | RTTAYLLYSLHLNSCLYYWASAYQGLGST->-<-----HWVYD-------------------- | 826 |
| CNGB3 | RTTGYLLFILHINACVYYWASNYEGIGTT->-<-----RWVYD-------------------- | 388 |
| HCN1 | NLIGMMLLLCHWDGCLQFLVPLLQDFPPD->-<-----CWVS-----LNEM------------ | 336 |
| HCN2 | NLISMMLLLCHWDGCLQFLVPMLQDFPRN->-<-----CWVS-----INGM------------ | 405 |
| HCN3 | NLIGMMLLLCHWDGCLQFLVPMLQDFPPD->-<-----CWVS-----INHM------------ | 289 |
| HCN4 | NLIGMMLLLCHWDGCLQFLVPMLQDFPDD->-<-----CWVS-----INNM------------ | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R582C | c.1744C>T | Inherited Arrhythmia | LQTS | rs121912508 | 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 | 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 use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| Inherited Arrhythmia | LQTS | Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. Pacing Clin Electrophysiol. 2003 26(8):1660-7. 12877697 | |||
| 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 | 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Functional characterization of the LQT2-causing mutation R582C and the associated voltage-dependent fluorescence signal. Heart Rhythm. 2011 8(8):1273-80. 21376840 | |||
| 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 | |||
| p.R582L | c.1745G>T | Inherited Arrhythmia | LQTS | rs199473426 | SIFT: deleterious Polyphen: possibly 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.R582S | c.1744C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352 | ||
| p.R582H | c.1745G>A | Putative Benign | SIFT: Polyphen: | ||