Paralogue Annotation for SCN5A residue 66

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 66
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 66

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF63LDravet syndromeLow2 20729507

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.



SCN5ALQESRE-GLPEE--EAPRPQLDLQASKKLP>D<LYGNPPQELIGEPLEDLDPFYSTQK-TFI-94
SCN1AD----K-KDDDE--NGPKPNSDLEAGKNLP>F<IYGDIPPEMVSEPLEDLDPYYINKK-TFI-91
SCN2AE----RKDEDDE--NGPKPNSDLEAGKSLP>F<IYGDIPPEMVSVPLEDLDPYYINKK-TFI-92
SCN3AE----Q-DNDDE--NKPKPNSDLEAGKNLP>F<IYGDIPPEMVSEPLEDLDPYYINKK-TFI-91
SCN4AK----Q-MEIEE--PERKPRSDLEAGKNLP>M<IYGDPPPEVIGIPLEDLDPYYSNKK-TFI-94
SCN7AH----N-EDHEE--EDLKPTPDLEVGKKLP>F<IYGNLSQGMVSEPLEDVDPYYYKKKNTFI-81
SCN8AADGSHR-EDDED--SKPKPNSDLEAGKSLP>F<IYGDIPQGLVAVPLEDFDPYYLTQK-TFV-95
SCN9AE----K-KDDDE--EAPKPSSDLEAGKQLP>F<IYGDIPPGMVSEPLEDLDPYYADKK-TFI-89
SCN10AE-KHRE-QKDQE--EKPRPQLDLKACNQLP>K<FYGELPAELIGEPLEDLDPFYSTHR-TFM-93
SCN11A-----D-QTGEV--PQPRPQLDLKASRKLP>K<LYGDIPRELIGKPLEDLDPFYRNHK-TFM-92
CACNA1AVVGSG-GGRGAG--GSRQGGQ--------P>G<A-----------QRMYKQSMAQRARTMAL-61
CACNA1B--RGG-GAGGAG--GPGPGGLQ-------P>G<Q-----------RVLYKQSIAQRARTMAL-58
CACNA1CAAGLA----PEH--IPTPGAALSWQAAIDA>A<RQAKLMGSAGNATISTVSST-QRKRQQYG-87
CACNA1DLSGEG----PTSQPNSSKQTVLSWQAAIDA>A<RQAKAAQTMSTSAPPPVGSLSQRKRQQYA-89
CACNA1E-SD-Q-SRNRQG--TPVPA----------S>G<Q-----------AAAYKQTKAQRARTMAL-52
CACNA1FGAGPG----PEWGLCPGP----P------->A<V--------EGESSGASGLGTPKRRNQHS-55
CACNA1GLND------LSG--AGGRP----------->G<-----------PGSA-------EKDPG-SA44
CACNA1HRGS------ELG--VSPSE----------->S<-----------P-AA-------ERGAELG-63
CACNA1IGVTTE----QPG--P--RS--P-------P>S<-----------SPPG-------LEEPL-D-43
CACNA1S------------------------------>-<------------------SSPQDEGLRKK-14
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 66 for SCN5A.