Paralogue Annotation for SCN5A residue 1867

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1867
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1867

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1881DMyoclonic epilepsy of infancyHigh5 14504318, 22409937
SCN1AE1881KDravet syndromeHigh5 22071555
SCN1AE1881XDravet syndromeHigh5 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.



SCN5AVSGD-RIHCMDILFAFTKRVLGES--G--->E<MDALKIQMEEKFMA---ANP-SKISYEPIT1893
SCN1AVSGD-RIHCLDILFAFTKRVLGES--G--->E<MDALRIQMEERFMA---SNP-SKVSYQPIT1907
SCN2AVSGD-RIHCLDILFAFTKRVLGES--G--->E<MDALRIQMEERFMA---SNP-SKVSYEPIT1897
SCN3AVSGD-RIHCLDILFAFTKRVLGES--G--->E<MDALRIQMEDRFMA---SNP-SKVSYEPIT1892
SCN4AVPGD-KIHCLDILFALTKEVLGDS--G--->E<MDALKQTMEEKFMA---ANP-SKVSYEPIT1719
SCN7AAVGD-RIHCLDILLAFTKRVMGQD--V--->R<MEKVVSEIESGFLL---ANP-FKITCEPIT1617
SCN8AVSGD-RIHCLDILFAFTKRVLGDS--G--->E<LDILRQQMEERFVA---SNP-SKVSYEPIT1887
SCN9AVSGD-RIHCLDILFAFTKRVLGES--G--->E<MDSLRSQMEERFMS---ANP-SKVSYEPIT1870
SCN10AVPGD-KIHCLDILFAFTKNVLGES--G--->E<LDSLKANMEEKFMA---TNL-SKSSYEPIA1843
SCN11AVSED-RLHCMDILFAFTARVLGGS--D--->G<LDSMKAMMEEKFME---ANP-LKKLYEPIV1725
CACNA1AADD-NTVHFNSTLMALIRTALDIKIAKGGA>D<KQQMDAELRKEMMAIW-PNL-SQKTLDLLV1943
CACNA1BSNEDMTVHFTSTLMALIRTALEIKLAPAGT>K<QHQCDAELRKEISVVW-ANL-PQKTLDLLV1842
CACNA1CNSDG-TVMFNATLFALVRTALRIKTEG--->N<LEQANEELRAIIKKIW-KRT-SMKLLDQVV1605
CACNA1DNSDG-TVMFNATLFALVRTALKIKTEG--->N<LEQANEELRAVIKKIW-KKT-SMKLLDQVV1613
CACNA1EAED-MTVHFTSTLMALIRTALDIKIAKGGA>D<RQQLDSELQKETLAIW-PHL-SQKMLDLLV1855
CACNA1FNSDG-TVTFNATLFALVRTSLKIKTEG--->N<LEQANQELRIVIKKIW-KRM-KQKLLDEVI1570
CACNA1GAHA-RSASHFSLEHPTDRQLFDTI---S-->L<LIQGSLEWELKLMDEL-AGPGGQPSAFPSA1966
CACNA1H---------------LVARKV--------->-<------SVSRML-SLPNDSYM----FRPVV1938
CACNA1IAQE-N--LWLDSVSLIIKDSL--------->-<------EGELTIIDNL-SGSI----FHHYS1833
CACNA1SNSDG-TVTFNATLFALVRTALKIKTEG--->N<FEQANEELRAIIKKIW-KRT-SMKLLDQVI1510
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1867 for SCN5A.