Paralogue Annotation for SCN5A residue 527

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 527
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 527

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AA575VNeonatal-infantile seizuresLow2 19786696

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-----------HLSLTRGLSRTSMKPRSSR>G<--SIF------T--FRR-----R-DLG---538
SCN1ARLTYEKRYSSPHQSLLSIRGSLFSPRRNSR>T<--SLF------S--FRG---RAK-DVG---585
SCN2ARLTYEKRFSSPHQSLLSIRGSLFSPRRNSR>A<--SLF------S--FRG---RAK-DIG---588
SCN3ARLTSDKKFCSPHQSLLSIRGSLFSPRRNSK>T<--SIF------S--FRG---RAK-DVG---588
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ARIG--RKFSIMNQSLLSIPGSPFLSRHNSK>S<--SIF------S--FRGPG-RFR-DPG---578
SCN9ARRAHEKRLSTPNQSPLSIRGSLFSARRSSR>T<--SLF------S--FKG---RGR-DIG---565
SCN10A-------------RRMSFLGLASGKRRASH>G<--SVF------H--FRS---PGR-DIS---515
SCN11A------------------------------>-<------------------------------
CACNA1A----------------------------PF>D<G-ALR------R--TTI---K-K-------428
CACNA1B----------------------------PL>D<A-VLK------R--AAT---K-K-------424
CACNA1C------------------------------>-<EEKPR------N--MSM---P-----T---468
CACNA1D------------------------------>-<E-GKR------N--TSM---P-----T---468
CACNA1E----------------------------L->-<E-VLR------R--ATI---K-R-------417
CACNA1F------------------------------>-<E-G-RAGHRPQL--AEL---T-NRRRGRLR452
CACNA1G-----HHHHHHHHYHL-GNGTLRAPRASPE>I<Q-DRD------ANGSRRLMLP-P-------536
CACNA1H-----HHHHHHHHYHF-SHGSPRRPGPEPG>A<C-DTR------LVR-----AG-A-------555
CACNA1I-----GRHLGSRHCQT-LHGP--------->-<------------------------------512
CACNA1S------------------------------>-<-----------S--LDE---G-----G---392
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G527Rc.1579G>A Putative BenignSIFT:
Polyphen: