Paralogue Annotation for SCN5A residue 178

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 178
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 178

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA175VDravet syndromeHigh9 18930999
SCN1AA175TMyoclonic epilepsy of infancyHigh9 17347258

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.



SCN5AD-PPPWT--KYVEYTFTA-IYTFESLVKIL>A<RGFCLHAFTFLRDPWNWLDFSVIIMAYVSE208
SCN1AN-PPDWT--KNVEYTFTG-IYTFESLIKII>A<RGFCLEDFTFLRDPWNWLDFTVITFAYVTE205
SCN2AN-PPDWT--KNVEYTFTG-IYTFESLIKIL>A<RGFCLEDFTFLRDPWNWLDFTVITFAYVTE206
SCN3AN-PPDWT--KNVEYTFTG-IYTFESLIKIL>A<RGFCLEDFTFLRDPWNWLDFSVIVMAYVTE205
SCN4AD-PPPWS--KNVEYTFTG-IYTFESLIKIL>A<RGFCVDDFTFLRDPWNWLDFSVIMMAYLTE208
SCN7AN-LPKWR--PVLENTLLG-IYTFEILVKLF>A<RGVWAGSFSFLGDPWNWLDFSVTVFEVIIR195
SCN8AN-PPDWS--KNVEYTFTG-IYTFESLVKII>A<RGFCIDGFTFLRDPWNWLDFSVIMMAYITE209
SCN9AN-PPDWT--KNVEYTFTG-IYTFESLVKIL>A<RGFCVGEFTFLRDPWNWLDFVVIVFAYLTE203
SCN10AD-LPE-----KIEYVFTV-IYTFEALIKIL>A<RGFCLNEFTYLRDPWNWLDFSVITLAYVGT204
SCN11ANSNSNNT--DIAECVFTG-IYIFEALIKIL>A<RGFILDEFSFLRDPWNWLDSIVIGIAIVSY210
CACNA1ADKTPMSERLDDTEPYFIG-IFCFEAGIKII>A<LGFAFHKGSYLRNGWNVMDFVVVLTGILAT184
CACNA1BDKTPMSERLDDTEPYFIG-IFCFEAGIKII>A<LGFVFHKGSYLRNGWNVMDFVVVLTGILAT181
CACNA1CDSNATNSNLERVEYLFLI-IFTVEAFLKVI>A<YGLLFHPNAYLRNGWNLLDFIIVVVGLFSA210
CACNA1DDSNSTNHNLEKVEYAFLI-IFTVETFLKII>A<YGLLLHPNAYVRNGWNLLDFVIVIVGLFSV212
CACNA1EDKTPMSRRLEKTEPYFIG-IFCFEAGIKIV>A<LGFIFHKGSYLRNGWNVMDFIVVLSGILAT175
CACNA1FDSNTANHNLEQVEYVFLV-IFTVETVLKIV>A<YGLVLHPSAYIRNGWNLLDFIIVVVGLFSV178
CACNA1GACDSQRCRILQAFDDFIFAFFAVEMVVKMV>A<LGI-FGKKCYLGDTWNRLDFFIVIAGMLEY167
CACNA1HECGSERCNILEAFDAFIFAFFAVEMVIKMV>A<LGL-FGQKCYLGDTWNRLDFFIVVAGMMEY186
CACNA1IDCLSDRCKILQVFDDFIFIFFAMEMVLKMV>A<LGI-FGKKCYLGDTWNRLDFFIVMAGMVEY165
CACNA1SDNNSLNLGLEKLEYFFLI-VFSIEAAMKII>A<YGFLFHQDAYLRSGWNVLDFTIVFLGVFTV137
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A178Gc.533C>G Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
Inherited ArrhythmiaBrS Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861