No paralogue variants have been mapped to residue 519 for SCN5A.
SCN5A | -------------------HLSLTRGLSRT>S<MKPRSSRG--SIF------T--FRR----- | 534 |
SCN1A | FRFSIEGNRLTYEKRYSSPHQSLLSIRGSL>F<SPRRNSRT--SLF------S--FRG---RA | 581 |
SCN2A | FRFSLEGSRLTYEKRFSSPHQSLLSIRGSL>F<SPRRNSRA--SLF------S--FRG---RA | 584 |
SCN3A | FLFSMDGNRLTSDKKFCSPHQSLLSIRGSL>F<SPRRNSKT--SIF------S--FRG---RA | 584 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | FRLP-D-NRIG--RKFSIMNQSLLSIPGSP>F<LSRHNSKS--SIF------S--FRGPG-RF | 574 |
SCN9A | FHLGVEGHRRAHEKRLSTPNQSPLSIRGSL>F<SARRSSRT--SLF------S--FKG---RG | 561 |
SCN10A | ---------------------RRMSFLGLA>S<GKRRASHG--SVF------H--FRS---PG | 511 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<-----PFDG-ALR------R--TTI---K- | 427 |
CACNA1B | ------------------------------>-<-----PLDA-VLK------R--AAT---K- | 423 |
CACNA1C | ------------------------------>-<--------EEKPR------N--MSM---P- | 467 |
CACNA1D | ------------------------------>-<--------E-GKR------N--TSM---P- | 467 |
CACNA1E | ------------------------------>-<-----L--E-VLR------R--ATI---K- | 416 |
CACNA1F | ------------------------------>-<--------E-G-RAGHRPQL--AEL---T- | 444 |
CACNA1G | V-HHLVH------HHHHHHHHYHL-GNGTL>R<APRASPEIQ-DRD------ANGSRRLMLP- | 535 |
CACNA1H | VHHLVYH------HHHHHHHHYHF-SHGSP>R<RPGPEPGAC-DTR------LVR-----AG- | 554 |
CACNA1I | TKGQGDE------GRHLGSRHCQT-LHGP->-<------------------------------ | 512 |
CACNA1S | ------------------------------>-<-------------------S--LDE---G- | 391 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S519F | c.1556C>T | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients. Biomed Res Int. 2014 2014:462609. doi: 10.1155/2014/462609. 25401102 |