Paralogue Annotation for SCN5A residue 918

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 918
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 918

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AV781IHyperkalaemic periodic paralysisHigh9 7695243, 20981092, 18046642, 9266738

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.



SCN5AILCGE-WIETMWDCMEV-----SGQSLCLL>V<FLLVMVIGNLVVLNLFLALLLSSFS-ADNL947
SCN1AVLCGE-WIETMWDCMEV-----AGQAMCLT>V<FMMVMVIGNLVVLNLFLALLLSSFS-ADNL1000
SCN2AVLCGE-WIETMWDCMEV-----AGQTMCLT>V<FMMVMVIGNLVVLNLFLALLLSSFS-SDNL991
SCN3AVLCGE-WIETMWDCMEV-----AGQTMCLI>V<FMLVMVIGNLVVLNLFLALLLSSFS-SDNL992
SCN4AILCGE-WIETMWDCMEV-----AGQAMCLT>V<FLMVMVIGNLVVLNLFLALLLSSFS-ADSL810
SCN7AILCGE-WVETLWDCMEV-----AGQSWCIP>F<YLMVILIGNLLVLYLFLA-LVSSFS-SCKD736
SCN8AVLCGE-WIETMWDCMEV-----AGQAMCLI>V<FMMVMVIGNLVVLNLFLALLLSSFS-ADNL985
SCN9AVLCGE-WIETMWDCMEV-----AGQAMCLI>V<YMMVMVIGNLVVLNLFLALLLSSFS-SDNL965
SCN10AILCGE-WIENMWACMEV-----GQKSICLI>L<FLTVMVLGNLVVLNLFIALLLNSFS-ADNL898
SCN11AILCGE-WIENMWECMQEAN---ASSSLCVI>V<FILITVIGKLVVLNLFIALLLNSFS-NEER819
CACNA1AILTGEDWNEVMYDGIKSQGGV-QGGMVFSI>Y<FIVLTLFGNYTLLNVFLAIAVDNLANAQEL723
CACNA1BILTGEDWNAVMYHGIESQGGV-SKGMFSSF>Y<FIVLTLFGNYTLLNVFLAIAVDNLANAQEL719
CACNA1CILTGEDWNSVMYDGIMAYGGPSFPGMLVCI>Y<FIILFICGNYILLNVFLAIAVDNLADAESL762
CACNA1DILTGEDWNAVMYDGIMAYGGPSSSGMIVCI>Y<FIILFICGNYILLNVFLAIAVDNLADAESL781
CACNA1EILTGEDWNEVMYNGIRSQGGV-SSGMWSAI>Y<FIVLTLFGNYTLLNVFLAIAVDNLANAQEL712
CACNA1FILTGEDWNVVMYDGIMAYGGPFFPGMLVCI>Y<FIILFICGNYILLNVFLAIAVDNLASGDA-766
CACNA1GILTQEDWNKVLYNGMAS-T-S----SWAAL>Y<FIALMTFGNYVLFNLLVAILVEGFQ-AEEI972
CACNA1HILTQEDWNVVLYNGMAS-T-S----SWAAL>Y<FVALMTFGNYVLFNLLVAILVEGFQ-AEGD1023
CACNA1IILTQEDWNVVLYNGMAS-T-S----PWASL>Y<FVALMTFGNYVLFNLLVAILVEGFQAEGDA871
CACNA1SVLTGEDWTSMMYNGIMAYGGPSYPGMLVCI>Y<FIILFVCGNYILLNVFLAIAVDNLAEAESL670
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 918 for SCN5A.