Paralogue Annotation for SCN5A residue 1866

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1866
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1866

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1880EDravet syndrome C ?Medium3 21248271

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.



SCN5ADLPMVSGD-RIHCMDILFAFTKRVLGES-->G<---EMDALKIQMEEKFMA---ANP-SKISY1889
SCN1ADLPMVSGD-RIHCLDILFAFTKRVLGES-->G<---EMDALRIQMEERFMA---SNP-SKVSY1903
SCN2ADLPMVSGD-RIHCLDILFAFTKRVLGES-->G<---EMDALRIQMEERFMA---SNP-SKVSY1893
SCN3ADLPMVSGD-RIHCLDILFAFTKRVLGES-->G<---EMDALRIQMEDRFMA---SNP-SKVSY1888
SCN4ADLPMVPGD-KIHCLDILFALTKEVLGDS-->G<---EMDALKQTMEEKFMA---ANP-SKVSY1715
SCN7ADLPMAVGD-RIHCLDILLAFTKRVMGQD-->V<---RMEKVVSEIESGFLL---ANP-FKITC1613
SCN8ADLPMVSGD-RIHCLDILFAFTKRVLGDS-->G<---ELDILRQQMEERFVA---SNP-SKVSY1883
SCN9ADLPMVSGD-RIHCLDILFAFTKRVLGES-->G<---EMDSLRSQMEERFMS---ANP-SKVSY1866
SCN10ADLPLVPGD-KIHCLDILFAFTKNVLGES-->G<---ELDSLKANMEEKFMA---TNL-SKSSY1839
SCN11ADLPMVSED-RLHCMDILFAFTARVLGGS-->D<---GLDSMKAMMEEKFME---ANP-LKKLY1721
CACNA1ADLPVADD-NTVHFNSTLMALIRTALDIKIA>K<GGADKQQMDAELRKEMMAIW-PNL-SQKTL1939
CACNA1BNMPISNEDMTVHFTSTLMALIRTALEIKLA>P<AGTKQHQCDAELRKEISVVW-ANL-PQKTL1838
CACNA1CNMPLNSDG-TVMFNATLFALVRTALRIKTE>G<---NLEQANEELRAIIKKIW-KRT-SMKLL1601
CACNA1DNMPLNSDG-TVMFNATLFALVRTALKIKTE>G<---NLEQANEELRAVIKKIW-KKT-SMKLL1609
CACNA1ENMPVAED-MTVHFTSTLMALIRTALDIKIA>K<GGADRQQLDSELQKETLAIW-PHL-SQKML1851
CACNA1FNMPLNSDG-TVTFNATLFALVRTSLKIKTE>G<---NLEQANQELRIVIKKIW-KRM-KQKLL1566
CACNA1G-HPAAHA-RSASHFSLEHPTDRQLFDTI-->-<S--LLIQGSLEWELKLMDEL-AGPGGQPSA1962
CACNA1HDAPN---------------LVARKV----->-<----------SVSRML-SLPNDSYM----F1934
CACNA1ICYSPAQE-N--LWLDSVSLIIKDSL----->-<----------EGELTIIDNL-SGSI----F1829
CACNA1SNMPLNSDG-TVTFNATLFALVRTALKIKTE>G<---NFEQANEELRAIIKKIW-KRT-SMKLL1506
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1866 for SCN5A.