Paralogue Annotation for SCN5A residue 286

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 286
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 286

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HE282KEpilepsy, childhood absenceLow2 12891677, 14729682

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.



SCN5ALRHKCVR--------------------NFT>A<LN---G-TN-------------GS------293
SCN1ALRNKCIQ-WP-PTNASLEEH-SI-EKNITV>N<YN---G-TL-------------IN------306
SCN2ALRNKCLQ-WP-PDNSSFEIN-ITSFFNNSL>D<GN---G-TT-------------FN------308
SCN3ALRNKCLQ-WP-PSDSAFETN-TTSYFNGTM>D<SN---G-TF-------------VN------307
SCN4ALRQKCVR-WP-PPFN--DTN-TTWYSNDTW>Y<GN---D-TWYGNEMWYGNDSWYANDTWNSH327
SCN7ALKHKCFR-WP-QENE--------------->-<-N---E-TLH-------------N------281
SCN8ALRNKCVV-WP-------------------I>N<FN---E-SY-------------LE------294
SCN9ALKHKCFR-NS-------------------L>E<NN---E-TL-------------ES------288
SCN10ALKNKCVK-N-------------------DM>A<VN---E-TTN--------------------288
SCN11ALNLKCIS-R-------------------DC>K<-N---I-SN---------------------293
CACNA1AFHTTCFE-E-GTD------------DI--->-<-Q---G------------------------266
CACNA1BFHKACFP-N-STD------------A---->-<-E---P------------------------262
CACNA1CMHKTCYNQEGIAD-------------V--->-<PA---E------------------------310
CACNA1DMHKTCFF-A-DSD-------------I--->-<VA---E------------------------311
CACNA1ELHRACFM-N-NSG------------IL--->-<EG---F------------------------262
CACNA1FMHKTCYF-L-GSD-------------M--->-<EA---E------------------------277
CACNA1GLRNRCFL-P-ENFSLPLSVD-LE-RYYQT->E<NE---DESPFICSQPRENG-------MRSC282
CACNA1HLRNRCFL-D-SAFVRNNNLTFLR-PYYQT->E<EG---EENPFICSSRRDNG-------MQKC302
CACNA1ILRNRCFL-E-ENFTIQGDVA-LP-PYYQP->E<ED---DEMPFICSLSGDNG-------IMGC280
CACNA1SMHKTCYF-I-GTD-------------I--->-<VATVEN------------------------239
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A286Sc.856G>T Putative BenignSIFT: tolerated
Polyphen: benign
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative Benign 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
p.A286Tc.856G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.A286Pc.856G>C Putative BenignSIFT: tolerated
Polyphen: benign
p.A286Vc.857C>T Putative BenignSIFT:
Polyphen: