Paralogue Annotation for SCN5A residue 1049

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1049
Reference Amino Acid: I - Isoleucine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1049

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AI999LAtrial fibrillationHigh5 25691686

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-------------------------PVCVP>I<AVAESD------TDD------------QEE1061
SCN1A----------------------PSLTVTVP>I<AVGESD------FEN------------LNT1129
SCN2A----------------------PSLTVTVP>I<AVGESD------FEN------------LNT1119
SCN3A----------------------PSLTVTVP>I<AVGESD------FEN------------LNT1117
SCN4A----------------------PYLTIQVP>I<ASEESD------LEM------------PTE938
SCN7A----------------------PSVSETVP>I<ASGESD------IEN------------LDN850
SCN8A----------------------PNLTVRVP>I<AVGESD------FEN------------LNT1110
SCN9A----------------------PSLTVTVP>I<APGESD------LEN------------MNA1092
SCN10A----------------------PTVWVSVP>I<AEGESD------LDD------------LED1011
SCN11A-------------------------TWLAP>L<AEEEDD------VEF------------SGE931
CACNA1AGFWEGEAERGKAGDPHRRHVHRQGGSRESR>S<GSPRTG------ADGEHRRHRAHRR--PGE967
CACNA1BGPPEARSERGR-------GPGPEGGRRHHR>R<GSPEEA------AEREPRRHRAHRH--QDP944
CACNA1C----------------GESK---------->-<---------------------EEKIELKSI809
CACNA1D------------------------------>-<---------------------------NQI816
CACNA1EGGGEAVVTFED-----------RARHRQSQ>R<RSRHRRVRTEGKESSSASRSRSASQERSLD949
CACNA1F------------------------------>-<------------------------------
CACNA1G-----P-----------------SLKRRSP>S<GERRSL------LSG------------EGQ1137
CACNA1H-----P-----------------SLKRRGQ>C<GERESL------LSG------------EGK1172
CACNA1I-----P-----------------------P>S<AEHESL------LSA------------ERG1012
CACNA1S------------------------------>-<---------------------------EQK708
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1049 for SCN5A.