Paralogue Annotation for SCN5A residue 1106

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1106
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1106

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AG1105SEpilepsy, idiopathicLow0 21703448, 20156848

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.



SCN5AEAP-----PDSRTWSQVSATASS------E>A<---------EASASQADWRQQWKAEPQAPG1127
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
SCN10A------------------------------>-<------------------------------
SCN11A-----------------HQENKK------P>T<---------SQRVQSVEIDMFSEDEPHLTI978
CACNA1AATAESAAPHGSLGHAGLPQSPAKMGNSTDP>G<PMLAIPAMATNPQNAASRRTPNNPGNPSNP1135
CACNA1B-----EKE--------ATEKEAEIVEADKE>K<ELR-NHQPREPHCDLETSGTVTVGPMHTLP1045
CACNA1C--------EMPVGPRP-------------->-<------------------------------859
CACNA1D--------EVPAGPRP-------------->-<------------------------------865
CACNA1E----------------MGRVI-------S->-<----QSEPDLSCITAN--------------1059
CACNA1F--------EEEGAGGV-------------->-<------------------------------830
CACNA1G--------NLSKGERV-------------->-<------------------------------1236
CACNA1H--------EDSCCLRL-------------->-<------------------------------1254
CACNA1I--------DYTLCFRV-------------->-<------------------------------1130
CACNA1S--------EIPLSPRP-------------->-<------------------------------758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1106Sc.3316G>T Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775