Paralogue Annotation for SCN5A residue 182

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 182
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 182

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC179RMyoclonic epilepsy of infancyHigh9 23195492

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.



SCN5APWT--KYVEYTFTA-IYTFESLVKILARGF>C<LHAFTFLRDPWNWLDFSVIIMAYVSENIKL212
SCN1ADWT--KNVEYTFTG-IYTFESLIKIIARGF>C<LEDFTFLRDPWNWLDFTVITFAYVTEFVDL209
SCN2ADWT--KNVEYTFTG-IYTFESLIKILARGF>C<LEDFTFLRDPWNWLDFTVITFAYVTEFVDL210
SCN3ADWT--KNVEYTFTG-IYTFESLIKILARGF>C<LEDFTFLRDPWNWLDFSVIVMAYVTEFVDL209
SCN4APWS--KNVEYTFTG-IYTFESLIKILARGF>C<VDDFTFLRDPWNWLDFSVIMMAYLTEFVDL212
SCN7AKWR--PVLENTLLG-IYTFEILVKLFARGV>W<AGSFSFLGDPWNWLDFSVTVFEVIIRYSPL199
SCN8ADWS--KNVEYTFTG-IYTFESLVKIIARGF>C<IDGFTFLRDPWNWLDFSVIMMAYITEFVNL213
SCN9ADWT--KNVEYTFTG-IYTFESLVKILARGF>C<VGEFTFLRDPWNWLDFVVIVFAYLTEFVNL207
SCN10AE-----KIEYVFTV-IYTFEALIKILARGF>C<LNEFTYLRDPWNWLDFSVITLAYVGTAIDL208
SCN11ANNT--DIAECVFTG-IYIFEALIKILARGF>I<LDEFSFLRDPWNWLDSIVIGIAIVSYIPGI214
CACNA1AMSERLDDTEPYFIG-IFCFEAGIKIIALGF>A<FHKGSYLRNGWNVMDFVVVLTGILATVGTE188
CACNA1BMSERLDDTEPYFIG-IFCFEAGIKIIALGF>V<FHKGSYLRNGWNVMDFVVVLTGILATAGTD185
CACNA1CTNSNLERVEYLFLI-IFTVEAFLKVIAYGL>L<FHPNAYLRNGWNLLDFIIVVVGLFSAILEQ214
CACNA1DTNHNLEKVEYAFLI-IFTVETFLKIIAYGL>L<LHPNAYVRNGWNLLDFVIVIVGLFSVILEQ216
CACNA1EMSRRLEKTEPYFIG-IFCFEAGIKIVALGF>I<FHKGSYLRNGWNVMDFIVVLSGILATAGTH179
CACNA1FANHNLEQVEYVFLV-IFTVETVLKIVAYGL>V<LHPSAYIRNGWNLLDFIIVVVGLFSVLLEQ182
CACNA1GQRCRILQAFDDFIFAFFAVEMVVKMVALGI>-<FGKKCYLGDTWNRLDFFIVIAGMLEYSLDL171
CACNA1HERCNILEAFDAFIFAFFAVEMVIKMVALGL>-<FGQKCYLGDTWNRLDFFIVVAGMMEYSLDG190
CACNA1IDRCKILQVFDDFIFIFFAMEMVLKMVALGI>-<FGKKCYLGDTWNRLDFFIVMAGMVEYSLDL169
CACNA1SLNLGLEKLEYFFLI-VFSIEAAMKIIAYGF>L<FHQDAYLRSGWNVLDFTIVFLGVFTVILEQ141
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C182Rc.544T>C Inherited ArrhythmiaBrSrs199473066SIFT: 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