No paralogue variants have been mapped to residue 9 for SCN5A.
| SCN5A | ----MAN-F-L-------------LPR>G<TSSFRRFTRESLAAIEKRMAEK-QARGSTT | 38 |
| SCN1A | ---MEQT-V-L-------------VPP>G<PDSFNFFTRESLAAIERRIAEE-KAKNPKP | 39 |
| SCN2A | ---MAQS-V-L-------------VPP>G<PDSFRFFTRESLAAIEQRIAEE-KAKRPKQ | 39 |
| SCN3A | ---MAQA-L-L-------------VPP>G<PESFRLFTRESLAAIEKRAAEE-KAKKPKK | 39 |
| SCN4A | MARPSLC-T-L-------------VPL>G<PECLRPFTRESLAAIEQRAVEE-EARLQRN | 42 |
| SCN7A | --------M-L-------------ASP>E<PKGLVPFTKESFELIKQHIAKT-------- | 28 |
| SCN8A | ---MAAR-L-L-------------APP>G<PDSFKPFTPESLANIERRIAES-KLKKPPK | 39 |
| SCN9A | -----MA-M-L-------------PPP>G<PQSFVHFTKQSLALIEQRIAER-KSKEPKE | 37 |
| SCN10A | ----MEF-P-I-------------GSL>E<TNNFRRFTPESLVEIEKQIAAKQGT-KKAR | 38 |
| SCN11A | -MDDRCY-P-V-------------IFP>D<ERNFRPFTSDSLAAIEKRIAIQ-KEKKKSK | 41 |
| CACNA1A | MARF-----GD----EM-PARYGG--->-<--------GGSGAAAGV------------- | 23 |
| CACNA1B | MVRF-----GD----EL-GGRYGG--->-<--------PGGGERA--------------- | 21 |
| CACNA1C | MVNENTR--MYIPEENHQGSNYGS--->-<--------PR-PAHANMN--------A-NA | 34 |
| CACNA1D | MMMM-----MMMKKMQHQRQQQAD--->-<----H--ANE-ANYARGT--------R-LP | 33 |
| CACNA1E | MARF-----GE----AV-VARPGS--->-<-----------GDGD--------------- | 18 |
| CACNA1F | MSES-----E----GG----KDTT--->-<--------PE-PSPAN-------------- | 18 |
| CACNA1G | MDEE-ED--GA-------------GAE>E<SGQP-R-S---------F--------M--R | 21 |
| CACNA1H | MTEG-ARAADE--V-RV-P--LGAPPP>G<PAALVGASPESPGAPGRE--------A--E | 41 |
| CACNA1I | MAE------SA-------------SPP>S<SSAAAPAA------------------E--P | 19 |
| CACNA1S | MEP------------------------>-<------------------------------ | 3 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G9V | c.26G>T | Inherited Arrhythmia | LQTS | rs199473043 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | ||
| Inherited Arrhythmia | LQTS | 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.G9S | c.25G>A | Putative Benign | SIFT: Polyphen: | ||