Paralogue Annotation for SCN5A residue 1712

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1712
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1712

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1725CDravet syndromeHigh9 18930999
SCN10AG1662SSmall fibre neuropathyHigh9 24006052, 24006052, 24998131
SCN4AG1537SEssential tremorHigh9 26427606

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.



SCN5AG-----IDDMFNFQTFANSMLCLFQITTSA>G<WDGLLSPILNTGPPYCDPTLPN-S-NGSRG1740
SCN1AG-----IDDMFNFETFGNSMICLFQITTSA>G<WDGLLAPILNSKPPDCDPNKVN-PGSSVKG1754
SCN2AG-----IDDMFNFETFGNSMICLFQITTSA>G<WDGLLAPILNSGPPDCDPDKDH-PGSSVKG1744
SCN3AG-----IDDMFNFETFGNSMICLFQITTSA>G<WDGLLAPILNSAPPDCDPDTIH-PGSSVKG1739
SCN4AG-----IDDMFNFETFGNSIICLFEITTSA>G<WDGLLNPILNSGPPDCDPNLEN-PGTSVKG1566
SCN7AG-----INDVSNFETFGNSMLCLFQVAIFA>G<WDGMLDAIFNSKWSDCDPDKIN-PGTQVRG1464
SCN8AG-----IDDMFNFETFGNSMICLFQITTSA>G<WDGLLLPILN-RPPDCSLDKEH-PGSGFKG1734
SCN9AG-----INDMFNFETFGNSMICLFQITTSA>G<WDGLLAPILNSKPPDCDPKKVH-PGSSVEG1717
SCN10AG-----IDDMFNFQTFANSMLCLFQITTSA>G<WDGLLSPILNTGPPYCDPNLPN-S-NGTRG1690
SCN11AG-----IDDIFNFKTFASSMLCLFQISTSA>G<WDSLLSPMLRSKES-CN---------SSSE1572
CACNA1ADEDEFQITEHNNFRTFFQALMLLFRSATGE>A<WHNIMLSCLSG--KPCDKNSGIL-----T-1779
CACNA1BS-----INRHNNFRTFLQALMLLFRSATGE>A<WHEIMLSCLSN--QACDE---Q------A-1675
CACNA1CE-----INRNNNFQTFPQAVLLLFRCATGE>A<WQDIMLACMPG--KKCAPESEP-SNSTEGE1444
CACNA1DQ-----INRNNNFQTFPQAVLLLFRCATGE>A<WQEIMLACLPG--KLCDPESDY--NPGE-E1452
CACNA1EH-----INRHNNFRSFFGSLMLLFRSATGE>A<WQEIMLSCLGE--KGCEPDTTAPSGQNEN-1691
CACNA1FQ-----INRNNNFQTFPQAVLLLFRCATGE>A<WQEIMLASLPG--NRCDPESDF--GPGE-E1409
CACNA1GP--CEGLGRHATFRNFGMAFLTLFRVSTGD>N<WNGIMKDTLRD----CDQEST-----C---1821
CACNA1HP--CEGLSRHATFSNFGMAFLTLFRVSTGD>N<WNGIMKDTLRE----CSREDKH----C---1828
CACNA1IP--CEGMSRHATFENFGMAFLTLFQVSTGD>N<WNGIMKDTLRD----CTHDERS----C---1698
CACNA1SQ-----INRNNNFQTFPQAVLLLFRCATGE>A<WQEILLACSYG--KLCDPESDY--APGE-E1349
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1712Sc.5134G>A Inherited ArrhythmiaBrSrs199473298SIFT: 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