Paralogue Annotation for SCN5A residue 82

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 82
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 82

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD79HMyoclonic epilepsy of infancyMedium3 17347258
SCN1AD79NDravet syndrome C ?Medium3 21248271

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.



SCN5APRPQLDLQASKKLPDLYGNPPQELIGEPLE>D<LDPFYSTQK-TFI-VLNKGKTIFRFSATNA110
SCN1APKPNSDLEAGKNLPFIYGDIPPEMVSEPLE>D<LDPYYINKK-TFI-VLNKGKAIFRFSATSA107
SCN2APKPNSDLEAGKSLPFIYGDIPPEMVSVPLE>D<LDPYYINKK-TFI-VLNKGKAISRFSATPA108
SCN3APKPNSDLEAGKNLPFIYGDIPPEMVSEPLE>D<LDPYYINKK-TFI-VMNKGKAIFRFSATSA107
SCN4ARKPRSDLEAGKNLPMIYGDPPPEVIGIPLE>D<LDPYYSNKK-TFI-VLNKGKAIFRFSATPA110
SCN7ALKPTPDLEVGKKLPFIYGNLSQGMVSEPLE>D<VDPYYYKKKNTFI-VLNKNRTIFRFNAASI97
SCN8APKPNSDLEAGKSLPFIYGDIPQGLVAVPLE>D<FDPYYLTQK-TFV-VLNRGKTLFRFSATPA111
SCN9APKPSSDLEAGKQLPFIYGDIPPGMVSEPLE>D<LDPYYADKK-TFI-VLNKGKTIFRFNATPA105
SCN10APRPQLDLKACNQLPKFYGELPAELIGEPLE>D<LDPFYSTHR-TFM-VLNKGRTISRFSATRA109
SCN11APRPQLDLKASRKLPKLYGDIPRELIGKPLE>D<LDPFYRNHK-TFM-VLNRKRTIYRFSAKHA108
CACNA1ARQGGQ--------PGA-----------QRM>Y<KQSMAQRARTMAL-YNPIPVRQNCLTVNRS77
CACNA1BGPGGLQ-------PGQ-----------RVL>Y<KQSIAQRARTMAL-YNPIPVKQNCFTVNRS74
CACNA1CTPGAALSWQAAIDAARQAKLMGSAGNATIS>T<VSST-QRKRQQYG-KPKKQGSTTATRPPRA103
CACNA1DSKQTVLSWQAAIDAARQAKAAQTMSTSAPP>P<VGSLSQRKRQQYA-KSKKQGNSSNSRPARA105
CACNA1EVPA----------SGQ-----------AAA>Y<KQTKAQRARTMAL-YNPIPVRQNCFTVNRS68
CACNA1FGP----P-------AV--------EGESSG>A<SGLGTPKRRNQHS-KHKTVAVASAQRSPRA71
CACNA1GGRP-----------G-----------PGSA>-<------EKDPG-SADSEAEGLPYPALAPVV60
CACNA1HPSE-----------S-----------P-AA>-<------ERGAELG-ADEEQRVPYPALAATV79
CACNA1I-RS--P-------PS-----------SPPG>-<------LEEPL-D-G-ADPHVPHPDLAPIA58
CACNA1S------------------------------>-<--SSPQDEGLRKK-QPKKPVPEILPRPPRA30
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D82Ec.246C>A Putative BenignSIFT:
Polyphen:
p.D82Ec.246C>G Putative BenignSIFT:
Polyphen: