| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | R28C | Generalized epilepsy with febrile seizures plus | Medium | 2 | 18804930, 26990884 |
| SCN2A | R28C | Autism spectrum disorder | Medium | 2 | 23849776 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.
| SCN5A | ---------LPRGTSSFRRFTRESLAAIEK>R<MAEK-QARGSTTLQESRE-GLPEE--EAPR | 53 |
| SCN1A | ---------VPPGPDSFNFFTRESLAAIER>R<IAEE-KAKNPKPD----K-KDDDE--NGPK | 50 |
| SCN2A | ---------VPPGPDSFRFFTRESLAAIEQ>R<IAEE-KAKRPKQE----RKDEDDE--NGPK | 51 |
| SCN3A | ---------VPPGPESFRLFTRESLAAIEK>R<AAEE-KAKKPKKE----Q-DNDDE--NKPK | 50 |
| SCN4A | ---------VPLGPECLRPFTRESLAAIEQ>R<AVEE-EARLQRNK----Q-MEIEE--PERK | 53 |
| SCN7A | ---------ASPEPKGLVPFTKESFELIKQ>H<IAKT--------H----N-EDHEE--EDLK | 39 |
| SCN8A | ---------APPGPDSFKPFTPESLANIER>R<IAES-KLKKPPKADGSHR-EDDED--SKPK | 54 |
| SCN9A | ---------PPPGPQSFVHFTKQSLALIEQ>R<IAER-KSKEPKEE----K-KDDDE--EAPK | 48 |
| SCN10A | ---------GSLETNNFRRFTPESLVEIEK>Q<IAAKQGT-KKARE-KHRE-QKDQE--EKPR | 52 |
| SCN11A | ---------IFPDERNFRPFTSDSLAAIEK>R<IAIQ-KEKKKSK-----D-QTGEV--PQPR | 51 |
| CACNA1A | EM-PARYGG------------GGSGAAAGV>-<------------VVGSG-GGRGAG--GSRQ | 38 |
| CACNA1B | EL-GGRYGG------------PGGGERA-->-<--------------RGG-GAGGAG--GPGP | 34 |
| CACNA1C | NHQGSNYGS------------PR-PAHANM>N<--------A-NAAAGLA----PEH--IPTP | 46 |
| CACNA1D | QHQRQQQAD--------H--ANE-ANYARG>T<--------R-LPLSGEG----PTSQPNSSK | 47 |
| CACNA1E | AV-VARPGS---------------GDGD-->-<-------------SD-Q-SRNRQG--TPVP | 31 |
| CACNA1F | G----KDTT------------PE-PSPAN->-<------------GAGPG----PEWGLCPGP | 32 |
| CACNA1G | ---------GAEESGQP-R-S--------->F<--------M--RLND------LSG--AGGR | 31 |
| CACNA1H | RV-P--LGAPPPGPAALVGASPESPGAPGR>E<--------A--ERGS------ELG--VSPS | 51 |
| CACNA1I | ---------SPPSSSAAAPAA--------->-<--------E--PGVTTE----QPG--P--R | 29 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R27H | c.80G>A | Inherited Arrhythmia | LQTS,BrS | rs199473045 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | ||
| 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 | BrS | Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. Front Physiol. 2013 4:153. doi: 10.3389/fphys.2013.00153. eCollection 23805106 | |||
| p.R27L | c.80G>T | Putative Benign | SIFT: Polyphen: | ||
| p.R27C | c.79C>T | Putative Benign | SIFT: Polyphen: | ||