No paralogue variants have been mapped to residue 517 for SCN5A.
| SCN5A | -N-------------------HLSLTRGLS>R<TSMKPRSSRG--SIF------T--FRR--- | 534 |
| SCN1A | -GFRFSIEGNRLTYEKRYSSPHQSLLSIRG>S<LFSPRRNSRT--SLF------S--FRG--- | 579 |
| SCN2A | -GFRFSLEGSRLTYEKRFSSPHQSLLSIRG>S<LFSPRRNSRA--SLF------S--FRG--- | 582 |
| SCN3A | -SFLFSMDGNRLTSDKKFCSPHQSLLSIRG>S<LFSPRRNSKT--SIF------S--FRG--- | 582 |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | -AFRLP-D-NRIG--RKFSIMNQSLLSIPG>S<PFLSRHNSKS--SIF------S--FRGPG- | 572 |
| SCN9A | -SFHLGVEGHRRAHEKRLSTPNQSPLSIRG>S<LFSARRSSRT--SLF------S--FKG--- | 559 |
| SCN10A | -----------------------RRMSFLG>L<ASGKRRASHG--SVF------H--FRS--- | 509 |
| SCN11A | ------------------------------>-<------------------------------ | |
| CACNA1A | ------------------------------>-<-------PFDG-ALR------R--TTI--- | 426 |
| CACNA1B | ------------------------------>-<-------PLDA-VLK------R--AAT--- | 422 |
| CACNA1C | ------------------------------>-<----------EEKPR------N--MSM--- | 466 |
| CACNA1D | ------------------------------>-<----------E-GKR------N--TSM--- | 466 |
| CACNA1E | ------------------------------>-<-------L--E-VLR------R--ATI--- | 415 |
| CACNA1F | ------------------------------>-<----------E-G-RAGHRPQL--AEL--- | 443 |
| CACNA1G | -SV-HHLVH------HHHHHHHHYHL-GNG>T<LRAPRASPEIQ-DRD------ANGSRRLML | 534 |
| CACNA1H | ASVHHLVYH------HHHHHHHHYHF-SHG>S<PRRPGPEPGAC-DTR------LVR-----A | 553 |
| CACNA1I | GKTKGQGDE------GRHLGSRHCQT-LHG>P<------------------------------ | 512 |
| CACNA1S | ------------------------------>-<---------------------S--LDE--- | 390 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R517S | c.1551G>C | Putative Benign | SIFT: Polyphen: |