Paralogue Annotation for SCN5A residue 889

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 889
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 889

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL942PMyoclonic epilepsy of infancyHigh9 17054684

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.



SCN5AL-RDS----D-SG---LLPRWHMMDFFHAF>L<IIFRILCGE-WIETMWDCMEV-----SGQS913
SCN1AC-VCK----I-AS-DCQLPRWHMNDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQA966
SCN2AC-VCK----I-SN-DCELPRWHMHDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQT957
SCN3AC-VCK----I-ND-DCTLPRWHMNDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQT958
SCN4AC-VCK----I-AL-DCNLPRWHMHDFFHSF>L<IVFRILCGE-WIETMWDCMEV-----AGQA776
SCN7AF-VCH----I-DK-DCQLPRWHMHDFFHSF>L<NVFRILCGE-WVETLWDCMEV-----AGQS703
SCN8AC-VCK----I-NQ-DCELPRWHMHDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQA951
SCN9AC-VCK----I-ND-DCTLPRWHMNDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQA931
SCN10AN-RKN----I-SAPHEDWPRWHMHDFFHSF>L<IVFRILCGE-WIENMWACMEV-----GQKS864
SCN11AQ-KSPKLCNPTGPTVSCLRHWHMGDFWHSF>L<VVFRILCGE-WIENMWECMQEAN---ASSS785
CACNA1AD-E------------G-TPPTNFDTFPAAI>M<TVFQILTGEDWNEVMYDGIKSQGGV-QGGM688
CACNA1BQ-D------------E-TPTTNFDTFPAAI>L<TVFQILTGEDWNAVMYHGIESQGGV-SKGM684
CACNA1CD-E------------MQTRRSTFDNFPQSL>L<TVFQILTGEDWNSVMYDGIMAYGGPSFPGM727
CACNA1DD-E------------TQTKRSTFDNFPQAL>L<TVFQILTGEDWNAVMYDGIMAYGGPSSSGM746
CACNA1EN-D------------G-TPSANFDTFPAAI>M<TVFQILTGEDWNEVMYNGIRSQGGV-SSGM677
CACNA1FD-Q------------THTKRSTFDTFPQAL>L<TVFQILTGEDWNVVMYDGIMAYGGPFFPGM732
CACNA1GER---------DG-DTLPDRKNFDSLLWAI>V<TVFQILTQEDWNKVLYNGMAS-T-S----S938
CACNA1HKTD--------TG-DTVPDRKNFDSLLWAI>V<TVFQILTQEDWNVVLYNGMAS-T-S----S989
CACNA1IRTD--------TG-DTVPDRKNFDSLLWAI>V<TVFQILTQEDWNVVLYNGMAS-T-S----P836
CACNA1SE-D------------TEVRRSNFDNFPQAL>I<SVFQVLTGEDWTSMMYNGIMAYGGPSYPGM635
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 889 for SCN5A.