Paralogue Annotation for SCN5A residue 521

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 521
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 521

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP566SDravet syndromeLow3 27236449

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5A-----------------HLSLTRGLSRTSM>K<PRSSRG--SIF------T--FRR-----R-535
SCN1AFSIEGNRLTYEKRYSSPHQSLLSIRGSLFS>P<RRNSRT--SLF------S--FRG---RAK-582
SCN2AFSLEGSRLTYEKRFSSPHQSLLSIRGSLFS>P<RRNSRA--SLF------S--FRG---RAK-585
SCN3AFSMDGNRLTSDKKFCSPHQSLLSIRGSLFS>P<RRNSKT--SIF------S--FRG---RAK-585
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ALP-D-NRIG--RKFSIMNQSLLSIPGSPFL>S<RHNSKS--SIF------S--FRGPG-RFR-575
SCN9ALGVEGHRRAHEKRLSTPNQSPLSIRGSLFS>A<RRSSRT--SLF------S--FKG---RGR-562
SCN10A-------------------RRMSFLGLASG>K<RRASHG--SVF------H--FRS---PGR-512
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<---PFDG-ALR------R--TTI---K-K-428
CACNA1B------------------------------>-<---PLDA-VLK------R--AAT---K-K-424
CACNA1C------------------------------>-<------EEKPR------N--MSM---P---467
CACNA1D------------------------------>-<------E-GKR------N--TSM---P---467
CACNA1E------------------------------>-<---L--E-VLR------R--ATI---K-R-417
CACNA1F------------------------------>-<------E-G-RAGHRPQL--AEL---T-NR446
CACNA1GHHLVH------HHHHHHHHYHL-GNGTLRA>P<RASPEIQ-DRD------ANGSRRLMLP-P-536
CACNA1HHLVYH------HHHHHHHHYHF-SHGSPRR>P<GPEPGAC-DTR------LVR-----AG-A-555
CACNA1IGQGDE------GRHLGSRHCQT-LHGP--->-<------------------------------512
CACNA1S------------------------------>-<-----------------S--LDE---G---391
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K521Ec.1561A>G Putative BenignSIFT: tolerated
Polyphen: benign