Paralogue Annotation for SCN5A residue 879

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 879
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 879

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW932XMyoclonic epilepsy of infancyHigh8 12754708, 24656210, 25525159
SCN1AW932CDravet syndrome C ?High8 21248271

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.



SCN5AMQLFGKNYSEL-RDS----D-SG---LLPR>W<HMMDFFHAFLIIFRILCGE-WIETMWDCME908
SCN1AMQLFGKSYKDC-VCK----I-AS-DCQLPR>W<HMNDFFHSFLIVFRVLCGE-WIETMWDCME961
SCN2AMQLFGKSYKEC-VCK----I-SN-DCELPR>W<HMHDFFHSFLIVFRVLCGE-WIETMWDCME952
SCN3AMQLFGKSYKEC-VCK----I-ND-DCTLPR>W<HMNDFFHSFLIVFRVLCGE-WIETMWDCME953
SCN4AMQLFGKSYKEC-VCK----I-AL-DCNLPR>W<HMHDFFHSFLIVFRILCGE-WIETMWDCME771
SCN7AMKLFGKNYEEF-VCH----I-DK-DCQLPR>W<HMHDFFHSFLNVFRILCGE-WVETLWDCME698
SCN8AMQLFGKSYKEC-VCK----I-NQ-DCELPR>W<HMHDFFHSFLIVFRVLCGE-WIETMWDCME946
SCN9AMQLFGKSYKEC-VCK----I-ND-DCTLPR>W<HMNDFFHSFLIVFRVLCGE-WIETMWDCME926
SCN10AKQLLGENYRNN-RKN----I-SAPHEDWPR>W<HMHDFFHSFLIVFRILCGE-WIENMWACME859
SCN11AMQLFGRSFNSQ-KSPKLCNPTGPTVSCLRH>W<HMGDFWHSFLVVFRILCGE-WIENMWECMQ778
CACNA1AMQLFGGQFNFD-E------------G-TPP>T<NFDTFPAAIMTVFQILTGEDWNEVMYDGIK679
CACNA1BMQLFGGQFNFQ-D------------E-TPT>T<NFDTFPAAILTVFQILTGEDWNAVMYHGIE675
CACNA1CMQLFGGKFNFD-E------------MQTRR>S<TFDNFPQSLLTVFQILTGEDWNSVMYDGIM717
CACNA1DMQLFGGKFNFD-E------------TQTKR>S<TFDNFPQALLTVFQILTGEDWNAVMYDGIM736
CACNA1EMQLFGGRFNFN-D------------G-TPS>A<NFDTFPAAIMTVFQILTGEDWNEVMYNGIR668
CACNA1FMQLFGGKFNFD-Q------------THTKR>S<TFDTFPQALLTVFQILTGEDWNVVMYDGIM722
CACNA1GMHLFGCKFASER---------DG-DTLPDR>K<NFDSLLWAIVTVFQILTQEDWNKVLYNGMA934
CACNA1HMHLFGCKFSLKTD--------TG-DTVPDR>K<NFDSLLWAIVTVFQILTQEDWNVVLYNGMA985
CACNA1IMHIFGCKFSLRTD--------TG-DTVPDR>K<NFDSLLWAIVTVFQILTQEDWNVVLYNGMA832
CACNA1SMQLFGGRYDFE-D------------TEVRR>S<NFDNFPQALISVFQVLTGEDWTSMMYNGIM625
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 879 for SCN5A.