No paralogue variants have been mapped to residue 532 for SCN5A.
| SCN5A | TRGLSRTSMKPRSSRG--SIF------T-->F<RR-----R-DLG-----SEA-------DFA | 544 |
| SCN1A | LSIRGSLFSPRRNSRT--SLF------S-->F<RG---RAK-DVG-----SEN-------DFA | 591 |
| SCN2A | LSIRGSLFSPRRNSRA--SLF------S-->F<RG---RAK-DIG-----SEN-------DFA | 594 |
| SCN3A | LSIRGSLFSPRRNSKT--SIF------S-->F<RG---RAK-DVG-----SEN-------DFA | 594 |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | LSIPGSPFLSRHNSKS--SIF------S-->F<RGPG-RFR-DPG-----SEN-------EFA | 584 |
| SCN9A | LSIRGSLFSARRSSRT--SLF------S-->F<KG---RGR-DIG-----SET-------EFA | 571 |
| SCN10A | MSFLGLASGKRRASHG--SVF------H-->F<RS---PGR-DIS-----LPE-------GVT | 521 |
| SCN11A | ------------------------------>-<------------------------------ | |
| CACNA1A | -------------PFDG-ALR------R-->T<TI---K-K---------SKT---------- | 431 |
| CACNA1B | -------------PLDA-VLK------R-->A<AT---K-K---------SRN---------- | 427 |
| CACNA1C | ----------------EEKPR------N-->M<SM---P-----T-----SET---------- | 471 |
| CACNA1D | ----------------E-GKR------N-->T<SM---P-----T-----SET---------- | 471 |
| CACNA1E | -------------L--E-VLR------R-->A<TI---K-R---------SRT---------- | 420 |
| CACNA1F | ----------------E-G-RAGHRPQL-->A<EL---T-NRRRGRLRWFSHS---------- | 457 |
| CACNA1G | L-GNGTLRAPRASPEIQ-DRD------ANG>S<RRLMLP-P---------PS-TPALSGAPPG | 548 |
| CACNA1H | F-SHGSPRRPGPEPGAC-DTR------LVR>-<----AG-A---------PPSPPSPGRGPPD | 568 |
| CACNA1I | T-LHGP------------------------>-<------------------A--------SPG | 516 |
| CACNA1S | ---------------------------S-->L<DE---G-----G-----SDT---------- | 395 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F532C | c.1595T>G | Inherited Arrhythmia | BrS | rs199473573 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia. Ann Hum Genet. 2005 69(Pt 4):413-28. 15996170 | |||
| Other Cardiac Phenotype | Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008 64(5):482-7. 18596570 | ||||
| Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | |||
| p.F532L | c.1594T>C | Putative Benign | SIFT: Polyphen: | ||