Paralogue Annotation for SCN5A residue 1872

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1872
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1872

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR1886XMyoclonic epilepsy of infancyMedium4 17054684, 22409937
SCN1AR1886QDravet syndromeMedium4 23398550

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.



SCN5ARIHCMDILFAFTKRVLGES--G---EMDAL>K<IQMEEKFMA---ANP-SKISYEPITTTLRR1898
SCN1ARIHCLDILFAFTKRVLGES--G---EMDAL>R<IQMEERFMA---SNP-SKVSYQPITTTLKR1912
SCN2ARIHCLDILFAFTKRVLGES--G---EMDAL>R<IQMEERFMA---SNP-SKVSYEPITTTLKR1902
SCN3ARIHCLDILFAFTKRVLGES--G---EMDAL>R<IQMEDRFMA---SNP-SKVSYEPITTTLKR1897
SCN4AKIHCLDILFALTKEVLGDS--G---EMDAL>K<QTMEEKFMA---ANP-SKVSYEPITTTLKR1724
SCN7ARIHCLDILLAFTKRVMGQD--V---RMEKV>V<SEIESGFLL---ANP-FKITCEPITTTLKR1622
SCN8ARIHCLDILFAFTKRVLGDS--G---ELDIL>R<QQMEERFVA---SNP-SKVSYEPITTTLRR1892
SCN9ARIHCLDILFAFTKRVLGES--G---EMDSL>R<SQMEERFMS---ANP-SKVSYEPITTTLKR1875
SCN10AKIHCLDILFAFTKNVLGES--G---ELDSL>K<ANMEEKFMA---TNL-SKSSYEPIATTLRW1848
SCN11ARLHCMDILFAFTARVLGGS--D---GLDSM>K<AMMEEKFME---ANP-LKKLYEPIVTTTKR1730
CACNA1ATVHFNSTLMALIRTALDIKIAKGGADKQQM>D<AELRKEMMAIW-PNL-SQKTLDLLVTPHKS1948
CACNA1BTVHFTSTLMALIRTALEIKLAPAGTKQHQC>D<AELRKEISVVW-ANL-PQKTLDLLVPPHKP1847
CACNA1CTVMFNATLFALVRTALRIKTEG---NLEQA>N<EELRAIIKKIW-KRT-SMKLLDQVVPPAGD1610
CACNA1DTVMFNATLFALVRTALKIKTEG---NLEQA>N<EELRAVIKKIW-KKT-SMKLLDQVVPPAGD1618
CACNA1ETVHFTSTLMALIRTALDIKIAKGGADRQQL>D<SELQKETLAIW-PHL-SQKMLDLLVPMPKA1860
CACNA1FTVTFNATLFALVRTSLKIKTEG---NLEQA>N<QELRIVIKKIW-KRM-KQKLLDEVIPPPDE1575
CACNA1GSASHFSLEHPTDRQLFDTI---S--LLIQG>S<LEWELKLMDEL-AGPGGQPSAFPSAPSLGG1971
CACNA1H----------LVARKV-------------->-<-SVSRML-SLPNDSYM----FRPVVPASAP1943
CACNA1I--LWLDSVSLIIKDSL-------------->-<-EGELTIIDNL-SGSI----FHHYSSPAGC1838
CACNA1STVTFNATLFALVRTALKIKTEG---NFEQA>N<EELRAIIKKIW-KRT-SMKLLDQVIPPIGD1515
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1872Nc.5616G>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283