Paralogue Annotation for SCN5A residue 1146

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1146
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1146

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AL1123FDravet syndrome ?Low2 19763161

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------------------DSCSEGSTADMT>N<TAELLEQIPDLGQDVKDP------------1164
SCN1A------------------SSSSEGSTVDIG>A<PVE--EQPVVEPEETLEP------------1177
SCN2A------------------TSSSEGSTVDIG>A<PAEG-EQPEVEPEESLEP------------1167
SCN3A------------------TSSSEGSTVDVV>L<PREG-EQAETEPEEDLKP------------1165
SCN4A------------------GNSSVCSTADYK>P<PEEDPEEQAEENPEGEQP------------990
SCN7A------------------SSSSECSTVDIA>I<SEEE--EM----FYGGER------------893
SCN8A------------------TSSSEGSTIDIK>P<EVE--EVPVEQPEEYLDP------------1157
SCN9A------------------SSSSECSTVDNP>L<PGEG-EEAEAEPMNSDEP------------1140
SCN10A------------------TSSSEGSTVDCL>D<PEEILRKIPELADDLEEP------------1111
SCN11A-----------------TSILSECSTIDLQ>D<GFG--WLP--EMVPKKQP------------1015
CACNA1ANSLIVTNPSGTQTNSAKTARKPDHTTVDIP>P<ACPPPL---------NHTVVQVNKNANPDP1194
CACNA1BEEQPEDADNQRNVTRMGSQPPDPNTIVHIP>V<MLTGPL---------GEATVVPSGNVD---1101
CACNA1C------------------------------>-<---RPL---------SEL----------H-866
CACNA1D------------------------------>-<---RRI---------SEL----------N-872
CACNA1ESTSVTVAIPDVDP-------LVDSTVVHIS>N<KTDG------------EASPLKEAEI----1104
CACNA1F------------------------------>-<---ELL---------QEV----------V-837
CACNA1G------------------------------>-<---RAW---------IRA----------R-1243
CACNA1H------------------------------>-<---HKV---------LEP----------Y-1261
CACNA1I------------------------------>-<---RKM---------IDV----------Y-1137
CACNA1S------------------------------>-<---RPL---------AEL----------Q-765
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1146 for SCN5A.