Paralogue Annotation for SCN5A residue 922

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 922
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 922

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AV960DEpileptic encephalopathyHigh9 25568300

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.



SCN5AE-WIETMWDCMEV-----SGQSLCLLVFLL>V<MVIGNLVVLNLFLALLLSSFS-ADNLTAP-950
SCN1AE-WIETMWDCMEV-----AGQAMCLTVFMM>V<MVIGNLVVLNLFLALLLSSFS-ADNLAAT-1003
SCN2AE-WIETMWDCMEV-----AGQTMCLTVFMM>V<MVIGNLVVLNLFLALLLSSFS-SDNLAAT-994
SCN3AE-WIETMWDCMEV-----AGQTMCLIVFML>V<MVIGNLVVLNLFLALLLSSFS-SDNLAAT-995
SCN4AE-WIETMWDCMEV-----AGQAMCLTVFLM>V<MVIGNLVVLNLFLALLLSSFS-ADSLAAS-813
SCN7AE-WVETLWDCMEV-----AGQSWCIPFYLM>V<ILIGNLLVLYLFLA-LVSSFS-SCKDVTA-739
SCN8AE-WIETMWDCMEV-----AGQAMCLIVFMM>V<MVIGNLVVLNLFLALLLSSFS-ADNLAAT-988
SCN9AE-WIETMWDCMEV-----AGQAMCLIVYMM>V<MVIGNLVVLNLFLALLLSSFS-SDNLTAI-968
SCN10AE-WIENMWACMEV-----GQKSICLILFLT>V<MVLGNLVVLNLFIALLLNSFS-ADNLTAP-901
SCN11AE-WIENMWECMQEAN---ASSSLCVIVFIL>I<TVIGKLVVLNLFIALLLNSFS-NEERNGNL823
CACNA1AEDWNEVMYDGIKSQGGV-QGGMVFSIYFIV>L<TLFGNYTLLNVFLAIAVDNLANAQELTKDE727
CACNA1BEDWNAVMYHGIESQGGV-SKGMFSSFYFIV>L<TLFGNYTLLNVFLAIAVDNLANAQELTKDE723
CACNA1CEDWNSVMYDGIMAYGGPSFPGMLVCIYFII>L<FICGNYILLNVFLAIAVDNLADAESLTSAQ766
CACNA1DEDWNAVMYDGIMAYGGPSSSGMIVCIYFII>L<FICGNYILLNVFLAIAVDNLADAESLNTAQ785
CACNA1EEDWNEVMYNGIRSQGGV-SSGMWSAIYFIV>L<TLFGNYTLLNVFLAIAVDNLANAQELTKDE716
CACNA1FEDWNVVMYDGIMAYGGPFFPGMLVCIYFII>L<FICGNYILLNVFLAIAVDNLASGDA-GTAK770
CACNA1GEDWNKVLYNGMAS-T-S----SWAALYFIA>L<MTFGNYVLFNLLVAILVEGFQ-AEEISKRE976
CACNA1HEDWNVVLYNGMAS-T-S----SWAALYFVA>L<MTFGNYVLFNLLVAILVEGFQ-AEGDANRS1027
CACNA1IEDWNVVLYNGMAS-T-S----PWASLYFVA>L<MTFGNYVLFNLLVAILVEGFQAEGDAN-RS874
CACNA1SEDWTSMMYNGIMAYGGPSYPGMLVCIYFII>L<FVCGNYILLNVFLAIAVDNLAEAESLTSAQ674
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 922 for SCN5A.