Paralogue Annotation for SCN5A residue 519

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 519
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 519

No paralogue variants have been mapped to residue 519 for SCN5A.



SCN5A-------------------HLSLTRGLSRT>S<MKPRSSRG--SIF------T--FRR-----534
SCN1AFRFSIEGNRLTYEKRYSSPHQSLLSIRGSL>F<SPRRNSRT--SLF------S--FRG---RA581
SCN2AFRFSLEGSRLTYEKRFSSPHQSLLSIRGSL>F<SPRRNSRA--SLF------S--FRG---RA584
SCN3AFLFSMDGNRLTSDKKFCSPHQSLLSIRGSL>F<SPRRNSKT--SIF------S--FRG---RA584
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8AFRLP-D-NRIG--RKFSIMNQSLLSIPGSP>F<LSRHNSKS--SIF------S--FRGPG-RF574
SCN9AFHLGVEGHRRAHEKRLSTPNQSPLSIRGSL>F<SARRSSRT--SLF------S--FKG---RG561
SCN10A---------------------RRMSFLGLA>S<GKRRASHG--SVF------H--FRS---PG511
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
CACNA1GV-HHLVH------HHHHHHHHYHL-GNGTL>R<APRASPEIQ-DRD------ANGSRRLMLP-535
CACNA1HVHHLVYH------HHHHHHHHYHF-SHGSP>R<RPGPEPGAC-DTR------LVR-----AG-554
CACNA1ITKGQGDE------GRHLGSRHCQT-LHGP->-<------------------------------512
CACNA1S------------------------------>-<-------------------S--LDE---G-391
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S519Fc.1556C>T Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS 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