Paralogue Annotation for SCN5A residue 512

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 512
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 512

No paralogue variants have been mapped to residue 512 for SCN5A.



SCN5APRAM--N-------------------HLSL>T<RGLSRTSMKPRSSRG--SIF------T--F532
SCN1AIRRK--GFRFSIEGNRLTYEKRYSSPHQSL>L<SIRGSLFSPRRNSRT--SLF------S--F577
SCN2AIRRK--GFRFSLEGSRLTYEKRFSSPHQSL>L<SIRGSLFSPRRNSRA--SLF------S--F580
SCN3AVKRS--SFLFSMDGNRLTSDKKFCSPHQSL>L<SIRGSLFSPRRNSKT--SIF------S--F580
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8AMRRK--AFRLP-D-NRIG--RKFSIMNQSL>L<SIPGSPFLSRHNSKS--SIF------S--F568
SCN9AIRRK--SFHLGVEGHRRAHEKRLSTPNQSP>L<SIRGSLFSARRSSRT--SLF------S--F557
SCN10AQ---------------------------RR>M<SFLGLASGKRRASHG--SVF------H--F507
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------PFDG-ALR------R--T424
CACNA1B------------------------------>-<------------PLDA-VLK------R--A420
CACNA1C------------------------------>-<---------------EEKPR------N--M464
CACNA1D------------------------------>-<---------------E-GKR------N--T464
CACNA1E------------------------------>-<------------L--E-VLR------R--A413
CACNA1F------------------------------>-<---------------E-G-RAGHRPQL--A441
CACNA1GHRRL--SV-HHLVH------HHHHHHHHYH>L<-GNGTLRAPRASPEIQ-DRD------ANGS529
CACNA1H--RHTASVHHLVYH------HHHHHHHHYH>F<-SHGSPRRPGPEPGAC-DTR------LVR-552
CACNA1I--HYHGKTKGQGDE------GRHLGSRHCQ>T<-LHGP-------------------------512
CACNA1S------------------------------>-<--------------------------S--L388
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T512Ic.1535C>T Other Cardiac Phenotypers199473118SIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest. 2003 111(3):341-6. 12569159