Paralogue Annotation for SCN5A residue 920

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 920
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 920

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM973KDravet syndromeMedium9 18930999
SCN1AM973VCryptogenic generalised epilepsyMedium9 17347258

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.



SCN5ACGE-WIETMWDCMEV-----SGQSLCLLVF>L<LVMVIGNLVVLNLFLALLLSSFS-ADNLTA949
SCN1ACGE-WIETMWDCMEV-----AGQAMCLTVF>M<MVMVIGNLVVLNLFLALLLSSFS-ADNLAA1002
SCN2ACGE-WIETMWDCMEV-----AGQTMCLTVF>M<MVMVIGNLVVLNLFLALLLSSFS-SDNLAA993
SCN3ACGE-WIETMWDCMEV-----AGQTMCLIVF>M<LVMVIGNLVVLNLFLALLLSSFS-SDNLAA994
SCN4ACGE-WIETMWDCMEV-----AGQAMCLTVF>L<MVMVIGNLVVLNLFLALLLSSFS-ADSLAA812
SCN7ACGE-WVETLWDCMEV-----AGQSWCIPFY>L<MVILIGNLLVLYLFLA-LVSSFS-SCKDVT738
SCN8ACGE-WIETMWDCMEV-----AGQAMCLIVF>M<MVMVIGNLVVLNLFLALLLSSFS-ADNLAA987
SCN9ACGE-WIETMWDCMEV-----AGQAMCLIVY>M<MVMVIGNLVVLNLFLALLLSSFS-SDNLTA967
SCN10ACGE-WIENMWACMEV-----GQKSICLILF>L<TVMVLGNLVVLNLFIALLLNSFS-ADNLTA900
SCN11ACGE-WIENMWECMQEAN---ASSSLCVIVF>I<LITVIGKLVVLNLFIALLLNSFS-NEERNG821
CACNA1ATGEDWNEVMYDGIKSQGGV-QGGMVFSIYF>I<VLTLFGNYTLLNVFLAIAVDNLANAQELTK725
CACNA1BTGEDWNAVMYHGIESQGGV-SKGMFSSFYF>I<VLTLFGNYTLLNVFLAIAVDNLANAQELTK721
CACNA1CTGEDWNSVMYDGIMAYGGPSFPGMLVCIYF>I<ILFICGNYILLNVFLAIAVDNLADAESLTS764
CACNA1DTGEDWNAVMYDGIMAYGGPSSSGMIVCIYF>I<ILFICGNYILLNVFLAIAVDNLADAESLNT783
CACNA1ETGEDWNEVMYNGIRSQGGV-SSGMWSAIYF>I<VLTLFGNYTLLNVFLAIAVDNLANAQELTK714
CACNA1FTGEDWNVVMYDGIMAYGGPFFPGMLVCIYF>I<ILFICGNYILLNVFLAIAVDNLASGDA-GT768
CACNA1GTQEDWNKVLYNGMAS-T-S----SWAALYF>I<ALMTFGNYVLFNLLVAILVEGFQ-AEEISK974
CACNA1HTQEDWNVVLYNGMAS-T-S----SWAALYF>V<ALMTFGNYVLFNLLVAILVEGFQ-AEGDAN1025
CACNA1ITQEDWNVVLYNGMAS-T-S----PWASLYF>V<ALMTFGNYVLFNLLVAILVEGFQAEGDAN-872
CACNA1STGEDWTSMMYNGIMAYGGPSYPGMLVCIYF>I<ILFVCGNYILLNVFLAIAVDNLAEAESLTS672
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 920 for SCN5A.