Paralogue Annotation for SCN5A residue 1879

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1879
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1879

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AF1705IMyotoniaMedium3 15774523, 18690054, 24324661

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.



SCN5ALFAFTKRVLGES--G---EMDALKIQMEEK>F<MA---ANP-SKISYEPITTTLRRKHEEVS-1904
SCN1ALFAFTKRVLGES--G---EMDALRIQMEER>F<MA---SNP-SKVSYQPITTTLKRKQEEVS-1918
SCN2ALFAFTKRVLGES--G---EMDALRIQMEER>F<MA---SNP-SKVSYEPITTTLKRKQEEVS-1908
SCN3ALFAFTKRVLGES--G---EMDALRIQMEDR>F<MA---SNP-SKVSYEPITTTLKRKQEEVS-1903
SCN4ALFALTKEVLGDS--G---EMDALKQTMEEK>F<MA---ANP-SKVSYEPITTTLKRKHEEVC-1730
SCN7ALLAFTKRVMGQD--V---RMEKVVSEIESG>F<LL---ANP-FKITCEPITTTLKRKQEAVS-1628
SCN8ALFAFTKRVLGDS--G---ELDILRQQMEER>F<VA---SNP-SKVSYEPITTTLRRKQEEVS-1898
SCN9ALFAFTKRVLGES--G---EMDSLRSQMEER>F<MS---ANP-SKVSYEPITTTLKRKQEDVS-1881
SCN10ALFAFTKNVLGES--G---ELDSLKANMEEK>F<MA---TNL-SKSSYEPIATTLRWKQEDIS-1854
SCN11ALFAFTARVLGGS--D---GLDSMKAMMEEK>F<ME---ANP-LKKLYEPIVTTTKRKEEERG-1736
CACNA1ALMALIRTALDIKIAKGGADKQQMDAELRKE>M<MAIW-PNL-SQKTLDLLVTPHKSTDLTVGK1955
CACNA1BLMALIRTALEIKLAPAGTKQHQCDAELRKE>I<SVVW-ANL-PQKTLDLLVPPHKPDEMTVGK1854
CACNA1CLFALVRTALRIKTEG---NLEQANEELRAI>I<KKIW-KRT-SMKLLDQVVPPAGDDEVTVGK1617
CACNA1DLFALVRTALKIKTEG---NLEQANEELRAV>I<KKIW-KKT-SMKLLDQVVPPAGDDEVTVGK1625
CACNA1ELMALIRTALDIKIAKGGADRQQLDSELQKE>T<LAIW-PHL-SQKMLDLLVPMPKASDLTVGK1867
CACNA1FLFALVRTSLKIKTEG---NLEQANQELRIV>I<KKIW-KRM-KQKLLDEVIPPPDEEEVTVGK1582
CACNA1GEHPTDRQLFDTI---S--LLIQGSLEWELK>L<MDEL-AGPGGQPSAFPSAPSLGGSDP----1974
CACNA1H---LVARKV----------------SVSRM>L<-SLPNDSYM----FRPVVPASAPHPR----1946
CACNA1IVSLIIKDSL----------------EGELT>I<IDNL-SGSI----FHHYSSPAGCKKCHHDK1845
CACNA1SLFALVRTALKIKTEG---NFEQANEELRAI>I<KKIW-KRT-SMKLLDQVIPPIGDDEVTVGK1522
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1879 for SCN5A.