Paralogue Annotation for SCN5A residue 1871

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1871
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1871

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AL1865PEpileptic encephalopathy, infantileHigh4 26993267

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-RIHCMDILFAFTKRVLGES--G---EMDA>L<KIQMEEKFMA---ANP-SKISYEPITTTLR1897
SCN1A-RIHCLDILFAFTKRVLGES--G---EMDA>L<RIQMEERFMA---SNP-SKVSYQPITTTLK1911
SCN2A-RIHCLDILFAFTKRVLGES--G---EMDA>L<RIQMEERFMA---SNP-SKVSYEPITTTLK1901
SCN3A-RIHCLDILFAFTKRVLGES--G---EMDA>L<RIQMEDRFMA---SNP-SKVSYEPITTTLK1896
SCN4A-KIHCLDILFALTKEVLGDS--G---EMDA>L<KQTMEEKFMA---ANP-SKVSYEPITTTLK1723
SCN7A-RIHCLDILLAFTKRVMGQD--V---RMEK>V<VSEIESGFLL---ANP-FKITCEPITTTLK1621
SCN8A-RIHCLDILFAFTKRVLGDS--G---ELDI>L<RQQMEERFVA---SNP-SKVSYEPITTTLR1891
SCN9A-RIHCLDILFAFTKRVLGES--G---EMDS>L<RSQMEERFMS---ANP-SKVSYEPITTTLK1874
SCN10A-KIHCLDILFAFTKNVLGES--G---ELDS>L<KANMEEKFMA---TNL-SKSSYEPIATTLR1847
SCN11A-RLHCMDILFAFTARVLGGS--D---GLDS>M<KAMMEEKFME---ANP-LKKLYEPIVTTTK1729
CACNA1ANTVHFNSTLMALIRTALDIKIAKGGADKQQ>M<DAELRKEMMAIW-PNL-SQKTLDLLVTPHK1947
CACNA1BMTVHFTSTLMALIRTALEIKLAPAGTKQHQ>C<DAELRKEISVVW-ANL-PQKTLDLLVPPHK1846
CACNA1C-TVMFNATLFALVRTALRIKTEG---NLEQ>A<NEELRAIIKKIW-KRT-SMKLLDQVVPPAG1609
CACNA1D-TVMFNATLFALVRTALKIKTEG---NLEQ>A<NEELRAVIKKIW-KKT-SMKLLDQVVPPAG1617
CACNA1EMTVHFTSTLMALIRTALDIKIAKGGADRQQ>L<DSELQKETLAIW-PHL-SQKMLDLLVPMPK1859
CACNA1F-TVTFNATLFALVRTSLKIKTEG---NLEQ>A<NQELRIVIKKIW-KRM-KQKLLDEVIPPPD1574
CACNA1GRSASHFSLEHPTDRQLFDTI---S--LLIQ>G<SLEWELKLMDEL-AGPGGQPSAFPSAPSLG1970
CACNA1H-----------LVARKV------------->-<--SVSRML-SLPNDSYM----FRPVVPASA1942
CACNA1IN--LWLDSVSLIIKDSL------------->-<--EGELTIIDNL-SGSI----FHHYSSPAG1837
CACNA1S-TVTFNATLFALVRTALKIKTEG---NFEQ>A<NEELRAIIKKIW-KRT-SMKLLDQVIPPIG1514
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1871 for SCN5A.