Paralogue Annotation for SCN5A residue 514

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 514
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 514

No paralogue variants have been mapped to residue 514 for SCN5A.



SCN5AAM--N-------------------HLSLTR>G<LSRTSMKPRSSRG--SIF------T--FRR534
SCN1ARK--GFRFSIEGNRLTYEKRYSSPHQSLLS>I<RGSLFSPRRNSRT--SLF------S--FRG579
SCN2ARK--GFRFSLEGSRLTYEKRFSSPHQSLLS>I<RGSLFSPRRNSRA--SLF------S--FRG582
SCN3ARS--SFLFSMDGNRLTSDKKFCSPHQSLLS>I<RGSLFSPRRNSKT--SIF------S--FRG582
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ARK--AFRLP-D-NRIG--RKFSIMNQSLLS>I<PGSPFLSRHNSKS--SIF------S--FRG570
SCN9ARK--SFHLGVEGHRRAHEKRLSTPNQSPLS>I<RGSLFSARRSSRT--SLF------S--FKG559
SCN10A--------------------------RRMS>F<LGLASGKRRASHG--SVF------H--FRS509
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<----------PFDG-ALR------R--TTI426
CACNA1B------------------------------>-<----------PLDA-VLK------R--AAT422
CACNA1C------------------------------>-<-------------EEKPR------N--MSM466
CACNA1D------------------------------>-<-------------E-GKR------N--TSM466
CACNA1E------------------------------>-<----------L--E-VLR------R--ATI415
CACNA1F------------------------------>-<-------------E-G-RAGHRPQL--AEL443
CACNA1GRL--SV-HHLVH------HHHHHHHHYHL->G<NGTLRAPRASPEIQ-DRD------ANGSRR531
CACNA1HRHTASVHHLVYH------HHHHHHHHYHF->S<HGSPRRPGPEPGAC-DTR------LVR---552
CACNA1IHYHGKTKGQGDE------GRHLGSRHCQT->L<HGP---------------------------512
CACNA1S------------------------------>-<------------------------S--LDE390
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G514Cc.1540G>T Inherited ArrhythmiaBrSrs137854606SIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype A sodium-channel mutation causes isolated cardiac conduction disease. Nature. 2001 409(6823):1043-7. 11234013
Inherited ArrhythmiaBrS Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009 6(3):341-8. 19251209