No paralogue variants have been mapped to residue 513 for SCN5A.
| SCN5A | RAM--N-------------------HLSLT>R<GLSRTSMKPRSSRG--SIF------T--FR | 533 |
| SCN1A | RRK--GFRFSIEGNRLTYEKRYSSPHQSLL>S<IRGSLFSPRRNSRT--SLF------S--FR | 578 |
| SCN2A | RRK--GFRFSLEGSRLTYEKRFSSPHQSLL>S<IRGSLFSPRRNSRA--SLF------S--FR | 581 |
| SCN3A | KRS--SFLFSMDGNRLTSDKKFCSPHQSLL>S<IRGSLFSPRRNSKT--SIF------S--FR | 581 |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | RRK--AFRLP-D-NRIG--RKFSIMNQSLL>S<IPGSPFLSRHNSKS--SIF------S--FR | 569 |
| SCN9A | RRK--SFHLGVEGHRRAHEKRLSTPNQSPL>S<IRGSLFSARRSSRT--SLF------S--FK | 558 |
| SCN10A | ---------------------------RRM>S<FLGLASGKRRASHG--SVF------H--FR | 508 |
| SCN11A | ------------------------------>-<------------------------------ | |
| CACNA1A | ------------------------------>-<-----------PFDG-ALR------R--TT | 425 |
| CACNA1B | ------------------------------>-<-----------PLDA-VLK------R--AA | 421 |
| CACNA1C | ------------------------------>-<--------------EEKPR------N--MS | 465 |
| CACNA1D | ------------------------------>-<--------------E-GKR------N--TS | 465 |
| CACNA1E | ------------------------------>-<-----------L--E-VLR------R--AT | 414 |
| CACNA1F | ------------------------------>-<--------------E-G-RAGHRPQL--AE | 442 |
| CACNA1G | RRL--SV-HHLVH------HHHHHHHHYHL>-<GNGTLRAPRASPEIQ-DRD------ANGSR | 530 |
| CACNA1H | -RHTASVHHLVYH------HHHHHHHHYHF>-<SHGSPRRPGPEPGAC-DTR------LVR-- | 552 |
| CACNA1I | -HYHGKTKGQGDE------GRHLGSRHCQT>-<LHGP-------------------------- | 512 |
| CACNA1S | ------------------------------>-<-------------------------S--LD | 389 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R513C | c.1537C>T | Putative Benign | rs145733679 | SIFT: deleterious Polyphen: benign | |
| p.Arg513His | c.1538G>A | Unknown | SIFT: Polyphen: |