Paralogue Annotation for SCN5A residue 1595

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1595
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1595

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1608YMyoclonic epilepsy of infancyHigh9 17561957, 24168886
SCN2AD1598GIntellectual disability, developmental delay, seizHigh9 22581936
SCN1AD1608GMyoclonic 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.



SCN5ALFVAIFTGECIVKLAALR-HYYFTNSWNIF>D<FVVVILSIVGTVLSDIIQ------------1613
SCN1AVFIVLFTGECVLKLISLR-HYYFTIGWNIF>D<FVVVILSIVGMFLAELIE------------1626
SCN2AVFIVLFTGECVLKLISLR-YYYFTIGWNIF>D<FVVVILSIVGMFLAELIE------------1616
SCN3AVFIVLFTGEFVLKLVSLR-HYYFTIGWNIF>D<FVVVILSIVGMFLAEMIE------------1611
SCN4AIFIIIFTGECVLKMLALR-QYYFTVGWNIF>D<FVVVILSIVGLALSDLIQ------------1438
SCN7AIFVMLYTMECILKLIAFR-CFYFTIAWNIF>D<FMVVIFSITGLCLPMTVG------------1336
SCN8AVFVIFFTCECVLKMFALR-HYYFTIGWNIF>D<FVVVILSIVGMFLADIIE------------1607
SCN9AVFIILFTGECVLKLISLR-HYYFTVGWNIF>D<FVVVIISIVGMFLADLIE------------1589
SCN10AFFVAVFTGECVMKMFALR-QYYFTNGWNVF>D<FIVVVLSIASLIFSAILKS-----------1562
SCN11AVFVVIFTLECLIKIFALR-QYYFTNGWNLF>D<CVVVLLSIVSTMISTLENQ-----------1452
CACNA1AVFTSLFSLECVLKVMAFGILNYFRDAWNIF>D<FVTVLGSITDILVTEFGNN-----------1653
CACNA1BVFTSMFSMECVLKIIAFGVLNYFRDAWNVF>D<FVTVLGSITDILVTEIAET-----------1559
CACNA1CLFTGLFTVEMILKLIAFKPKHYFCDAWNTF>D<ALIVVGSIVDIAITEVNPAE----HTQ---1310
CACNA1DVFTGVFTVEMVLKVIAFKPKGYFSDAWNTF>D<SLIVIGSIIDVALSEADPTE----SENVPV1319
CACNA1EAFTMVFSLECVLKVIAFGFLNYFRDTWNIF>D<FITVIGSITEIILTDSKLV-----------1565
CACNA1FVFTGLFTIEMVLKIIAFKPKHYFTDAWNTF>D<ALIVVGSIVDIAVTEVNNGG----HLG---1281
CACNA1GIFTVIFVLESVFKLVAFGFRRFFQDRWNQL>D<LAIVLLSIMGITLEEIEVN-----------1698
CACNA1HVFTIVFVFEAALKLVAFGFRRFFKDRWNQL>D<LAIVLLSLMGITLEEIEMS-----------1704
CACNA1IMFTTVFVLEAVLKLVAFGLRRFFKDRWNQL>D<LAIVLLSVMGITLEEIEIN-----------1574
CACNA1SAFTIIFTLEMILKLMAFKARGYFGDPWNVF>D<FLIVIGSIIDVILSEIDTFLASSGGLYCLG1216
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1595Hc.4783G>C CardiomyopathyDCMSIFT: deleterious
Polyphen: probably damaging
ReportsCardiomyopathyDCM Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005 293(4):447-54. 15671429
CardiomyopathyDCM Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. Circ Res. 2008 102(3):364-71. 18048769
p.D1595Nc.4783G>A Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation. 2002 105(3):341-6. 11804990