Paralogue Annotation for SCN5A residue 1096

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1096
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1096

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CR858HLong QT syndromeLow1 23174487, 23631430, 24728418

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.



SCN5A-------------GGPEAP-----PDSRTW>S<QVSATASS------EA---------EASAS1111
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<--HQENKK------PT---------SQRVQ962
CACNA1ADPPLAEDIDNMKNNKLATAESAAPHGSLGH>A<GLPQSPAKMGNSTDPGPMLAIPAMATNPQN1119
CACNA1B---------------------EKE------>-<-ATEKEAEIVEADKEKELR-NHQPREPHCD1029
CACNA1C------------------------EMPVGP>R<P-----------------------------859
CACNA1D------------------------EVPAGP>R<P-----------------------------865
CACNA1E------------------------------>-<-MGRVI-------S------QSEPDLSCIT1057
CACNA1F------------------------EEEGAG>G<V-----------------------------830
CACNA1G------------------------NLSKGE>R<V-----------------------------1236
CACNA1H------------------------EDSCCL>R<L-----------------------------1254
CACNA1I------------------------DYTLCF>R<V-----------------------------1130
CACNA1S------------------------EIPLSP>R<P-----------------------------758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1096 for SCN5A.