Paralogue Annotation for SCN5A residue 874

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 874
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 874

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC927FDravet syndromeMedium4 18930999

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.



SCN5AVFIFAVVGMQLFGKNYSEL-RDS----D-S>G<---LLPRWHMMDFFHAFLIIFRILCGE-WI900
SCN1AVFIFAVVGMQLFGKSYKDC-VCK----I-A>S<-DCQLPRWHMNDFFHSFLIVFRVLCGE-WI953
SCN2AVFIFAVVGMQLFGKSYKEC-VCK----I-S>N<-DCELPRWHMHDFFHSFLIVFRVLCGE-WI944
SCN3AVFIFAVVGMQLFGKSYKEC-VCK----I-N>D<-DCTLPRWHMNDFFHSFLIVFRVLCGE-WI945
SCN4AVFIFAVVGMQLFGKSYKEC-VCK----I-A>L<-DCNLPRWHMHDFFHSFLIVFRILCGE-WI763
SCN7AIFFSAAFGMKLFGKNYEEF-VCH----I-D>K<-DCQLPRWHMHDFFHSFLNVFRILCGE-WV690
SCN8AVFIFAVVGMQLFGKSYKEC-VCK----I-N>Q<-DCELPRWHMHDFFHSFLIVFRVLCGE-WI938
SCN9AVFIFAVVGMQLFGKSYKEC-VCK----I-N>D<-DCTLPRWHMNDFFHSFLIVFRVLCGE-WI918
SCN10AVFVFALVGKQLLGENYRNN-RKN----I-S>A<PHEDWPRWHMHDFFHSFLIVFRILCGE-WI851
SCN11AIFIFSVVGMQLFGRSFNSQ-KSPKLCNPTG>P<TVSCLRHWHMGDFWHSFLVVFRILCGE-WI770
CACNA1AIVVFALLGMQLFGGQFNFD-E--------->-<--G-TPPTNFDTFPAAIMTVFQILTGEDWN671
CACNA1BIVVFALLGMQLFGGQFNFQ-D--------->-<--E-TPTTNFDTFPAAILTVFQILTGEDWN667
CACNA1CIIIFSLLGMQLFGGKFNFD-E--------->-<--MQTRRSTFDNFPQSLLTVFQILTGEDWN709
CACNA1DIIIFSLLGMQLFGGKFNFD-E--------->-<--TQTKRSTFDNFPQALLTVFQILTGEDWN728
CACNA1EIVVFALLGMQLFGGRFNFN-D--------->-<--G-TPSANFDTFPAAIMTVFQILTGEDWN660
CACNA1FIIIFSLLGMQLFGGKFNFD-Q--------->-<--THTKRSTFDTFPQALLTVFQILTGEDWN714
CACNA1GIFIFSILGMHLFGCKFASER---------D>G<-DTLPDRKNFDSLLWAIVTVFQILTQEDWN926
CACNA1HIFIFSILGMHLFGCKFSLKTD--------T>G<-DTVPDRKNFDSLLWAIVTVFQILTQEDWN977
CACNA1IIFIFSILGMHIFGCKFSLRTD--------T>G<-DTVPDRKNFDSLLWAIVTVFQILTQEDWN824
CACNA1SIVIFALLGMQLFGGRYDFE-D--------->-<--TEVRRSNFDNFPQALISVFQVLTGEDWT617
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G874Dc.2621G>A Putative BenignSIFT:
Polyphen: