Paralogue Annotation for SCN5A residue 280

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 280
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 280

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC277RDravet syndromeHigh9 18930999
SCN1AC277GDravet syndromeHigh9 20487708
CACNA1AC256REpisodic ataxia 2High9 15173248

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.



SCN5ALADVMVLTVFCLSVFALIGLQLFMGNLRHK>C<VR--------------------NFTALN--288
SCN1ALSDVMILTVFCLSVFALIGLQLFMGNLRNK>C<IQ-WP-PTNASLEEH-SI-EKNITVNYN--301
SCN2ALSDVMILTVFCLSVFALIGLQLFMGNLRNK>C<LQ-WP-PDNSSFEIN-ITSFFNNSLDGN--303
SCN3ALSDVMILTVFCLSVFALIGLQLFMGNLRNK>C<LQ-WP-PSDSAFETN-TTSYFNGTMDSN--302
SCN4ALSDVMILTVFCLSVFALVGLQLFMGNLRQK>C<VR-WP-PPFN--DTN-TTWYSNDTWYGN--303
SCN7ALIGVIILTLFFLSIFSLIGMGLFMGNLKHK>C<FR-WP-QENE-----------------N--276
SCN8ALSDVMILTVFCLSVFALIGLQLFMGNLRNK>C<VV-WP-------------------INFN--289
SCN9ALSDVMILTVFCLSVFALIGLQLFMGNLKHK>C<FR-NS-------------------LENN--283
SCN10ALADVTILTIFCLSVFALVGLQLFKGNLKNK>C<VK-N-------------------DMAVN--284
SCN11ALVNVIILTFFCLSIFALVGQQLFMGSLNLK>C<IS-R-------------------DCK-N--290
CACNA1ALLQIGLLLFFAILIFAIIGLEFYMGKFHTT>C<FE-E-GTD------------DI-----Q--265
CACNA1BLLQIGLLLFFAILMFAIIGLEFYMGKFHKA>C<FP-N-STD------------A------E--261
CACNA1CLLHIALLVLFVIIIYAIIGLELFMGKMHKT>C<YNQEGIAD-------------V----PA--309
CACNA1DLLHIALLVLFVIIIYAIIGLELFIGKMHKT>C<FF-A-DSD-------------I----VA--310
CACNA1ELLQIGLLLFFAILMFAIIGLEFYSGKLHRA>C<FM-N-NSG------------IL----EG--261
CACNA1FLLHIALLVLFVIIIYAIIGLELFLGRMHKT>C<YF-L-GSD-------------M----EA--276
CACNA1GLGNVLLLCFFVFFIFGIVGVQLWAGLLRNR>C<FL-P-ENFSLPLSVD-LE-RYYQT-ENE--264
CACNA1HLGNVLLLCFFVFFIFGIVGVQLWAGLLRNR>C<FL-D-SAFVRNNNLTFLR-PYYQT-EEG--284
CACNA1ILGNVLLLCFFVFFIFGIIGVQLWAGLLRNR>C<FL-E-ENFTIQGDVA-LP-PYYQP-EED--262
CACNA1SLFHIALLVLFMVIIYAIIGLELFKGKMHKT>C<YF-I-GTD-------------I----VATV237
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C280Yc.839G>A Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification. Eur J Hum Genet. 2013 21(9):911-7. doi: 10.1038/ejhg.2012.289. 23321620