Paralogue Annotation for SCN5A residue 1095

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1095
Reference Amino Acid: W - Tryptophan
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1095

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CP857LLong QT syndromeMedium1 23677916

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-----PDSRT>W<SQVSATASS------EA---------EASA1110
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<---HQENKK------PT---------SQRV961
CACNA1AQDPPLAEDIDNMKNNKLATAESAAPHGSLG>H<AGLPQSPAKMGNSTDPGPMLAIPAMATNPQ1118
CACNA1B----------------------EKE----->-<--ATEKEAEIVEADKEKELR-NHQPREPHC1028
CACNA1C-------------------------EMPVG>P<RP----------------------------859
CACNA1D-------------------------EVPAG>P<RP----------------------------865
CACNA1E------------------------------>-<--MGRVI-------S------QSEPDLSCI1056
CACNA1F-------------------------EEEGA>G<GV----------------------------830
CACNA1G-------------------------NLSKG>E<RV----------------------------1236
CACNA1H-------------------------EDSCC>L<RL----------------------------1254
CACNA1I-------------------------DYTLC>F<RV----------------------------1130
CACNA1S-------------------------EIPLS>P<RP----------------------------758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W1095Cc.3285G>T Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661