Paralogue Annotation for SCN5A residue 915

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 915
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 915

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC968XDravet syndromeHigh9 18930999, 23195492, 25525159
SCN1AC968FDravet syndromeHigh9 26096185

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.



SCN5AIFRILCGE-WIETMWDCMEV-----SGQSL>C<LLVFLLVMVIGNLVVLNLFLALLLSSFS-A944
SCN1AVFRVLCGE-WIETMWDCMEV-----AGQAM>C<LTVFMMVMVIGNLVVLNLFLALLLSSFS-A997
SCN2AVFRVLCGE-WIETMWDCMEV-----AGQTM>C<LTVFMMVMVIGNLVVLNLFLALLLSSFS-S988
SCN3AVFRVLCGE-WIETMWDCMEV-----AGQTM>C<LIVFMLVMVIGNLVVLNLFLALLLSSFS-S989
SCN4AVFRILCGE-WIETMWDCMEV-----AGQAM>C<LTVFLMVMVIGNLVVLNLFLALLLSSFS-A807
SCN7AVFRILCGE-WVETLWDCMEV-----AGQSW>C<IPFYLMVILIGNLLVLYLFLA-LVSSFS-S733
SCN8AVFRVLCGE-WIETMWDCMEV-----AGQAM>C<LIVFMMVMVIGNLVVLNLFLALLLSSFS-A982
SCN9AVFRVLCGE-WIETMWDCMEV-----AGQAM>C<LIVYMMVMVIGNLVVLNLFLALLLSSFS-S962
SCN10AVFRILCGE-WIENMWACMEV-----GQKSI>C<LILFLTVMVLGNLVVLNLFIALLLNSFS-A895
SCN11AVFRILCGE-WIENMWECMQEAN---ASSSL>C<VIVFILITVIGKLVVLNLFIALLLNSFS-N816
CACNA1AVFQILTGEDWNEVMYDGIKSQGGV-QGGMV>F<SIYFIVLTLFGNYTLLNVFLAIAVDNLANA720
CACNA1BVFQILTGEDWNAVMYHGIESQGGV-SKGMF>S<SFYFIVLTLFGNYTLLNVFLAIAVDNLANA716
CACNA1CVFQILTGEDWNSVMYDGIMAYGGPSFPGML>V<CIYFIILFICGNYILLNVFLAIAVDNLADA759
CACNA1DVFQILTGEDWNAVMYDGIMAYGGPSSSGMI>V<CIYFIILFICGNYILLNVFLAIAVDNLADA778
CACNA1EVFQILTGEDWNEVMYNGIRSQGGV-SSGMW>S<AIYFIVLTLFGNYTLLNVFLAIAVDNLANA709
CACNA1FVFQILTGEDWNVVMYDGIMAYGGPFFPGML>V<CIYFIILFICGNYILLNVFLAIAVDNLASG764
CACNA1GVFQILTQEDWNKVLYNGMAS-T-S----SW>A<ALYFIALMTFGNYVLFNLLVAILVEGFQ-A969
CACNA1HVFQILTQEDWNVVLYNGMAS-T-S----SW>A<ALYFVALMTFGNYVLFNLLVAILVEGFQ-A1020
CACNA1IVFQILTQEDWNVVLYNGMAS-T-S----PW>A<SLYFVALMTFGNYVLFNLLVAILVEGFQAE868
CACNA1SVFQVLTGEDWTSMMYNGIMAYGGPSYPGML>V<CIYFIILFVCGNYILLNVFLAIAVDNLAEA667
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C915Rc.2743T>C Inherited ArrhythmiaBrSrs199473588SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283