Paralogue Annotation for SCN5A residue 504

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 504
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 504

No paralogue variants have been mapped to residue 504 for SCN5A.



SCN5AKR----MS-SGTE-ECGEDRLPKSDSEDGP>R<AM--N-------------------HLSLTR513
SCN1AKRKQKEQS-GGEE-KDE-DEFQKSESEDSI>R<RK--GFRFSIEGNRLTYEKRYSSPHQSLLS558
SCN2AKKKQKEQS-GEEE-KND--RVRKSESEDSI>R<RK--GFRFSLEGSRLTYEKRFSSPHQSLLS561
SCN3AKRRQREHL-EGNN-KGERDSFPKSESEDSV>K<RS--SFLFSMDGNRLTSDKKFCSPHQSLLS561
SCN4A-------E-GGEA-DGD------------->-<------------------------------499
SCN7A------------------------------>-<------------------------------
SCN8AKRKQKELS-EGEE-KGDPEKVFKSESEDGM>R<RK--AFRLP-D-NRIG--RKFSIMNQSLLS549
SCN9AKKNQKKLS-SGEE-KGDAEKLSKSESEDSI>R<RK--SFHLGVEGHRRAHEKRLSTPNQSPLS538
SCN10APRV----S-EGST-ED--NKSPRSDPYN-Q>-<--------------------------RRMS488
SCN11AKS----FF-LRES-GKD--QPPGSDSDE-->-<------------------------------486
CACNA1A----------------GEQRH--------->-<------------------------------415
CACNA1B----------------AEEKS--------->-<------------------------------411
CACNA1C----------------MD------------>-<------------------------------457
CACNA1D----------------GE------------>-<------------------------------458
CACNA1E----------------AGTSA--------->-<------------------------------406
CACNA1F----DNLG-SM-----AE------------>-<------------------------------430
CACNA1G----VGLLSSPAP-LGGQETQPSSSCSRSH>R<RL--SV-HHLVH------HHHHHHHHYHL-507
CACNA1H----RK-KVDPSA-VQGQGPGHRQRRAG-->-<RHTASVHHLVYH------HHHHHHHHYHF-531
CACNA1I----QA-L-GPEAPAPAK-PGPHAKEPR-->-<HYHGKTKGQGDE------GRHLGSRHCQT-508
CACNA1S----------------KL------------>-<------------------------------386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R504Tc.1511G>C Putative BenignSIFT:
Polyphen: