Paralogue Annotation for SCN5A residue 851

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 851
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 851

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF902CMyoclonic epilepsy of infancyHigh9 12083760, 15263074

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.



SCN5ASWPTLNTLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKNYSEL-RDS----D-SG-874
SCN1ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKDC-VCK----I-AS-925
SCN2ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-SN-916
SCN3ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-ND-917
SCN4ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-AL-735
SCN7AYWPTFQILMWSLSNSWVALKDLVLLLFTFI>F<FSAAFGMKLFGKNYEEF-VCH----I-DK-662
SCN8ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-NQ-910
SCN9ASWPTLNMLIKIIGNSVGALGNLTLVLAIIV>F<IFAVVGMQLFGKSYKEC-VCK----I-ND-890
SCN10ASWPTLNTLIKIIGNSVGALGNLTIILAIIV>F<VFALVGKQLLGENYRNN-RKN----I-SAP823
SCN11ASWPTLNTLIKIIGNSVGALGSLTVVLVIVI>F<IFSVVGMQLFGRSFNSQ-KSPKLCNPTGPT742
CACNA1AYWASLRNLVVSLLNSMKSIISLLFLLFLFI>V<VFALLGMQLFGGQFNFD-E-----------644
CACNA1BYWSSLRNLVVSLLNSMKSIISLLFLLFLFI>V<VFALLGMQLFGGQFNFQ-D-----------640
CACNA1CYWNSLSNLVASLLNSVRSIASLLLLLFLFI>I<IFSLLGMQLFGGKFNFD-E-----------681
CACNA1DHWTSLSNLVASLLNSMKSIASLLLLLFLFI>I<IFSLLGMQLFGGKFNFD-E-----------700
CACNA1EYWASLRNLVVSLMSSMKSIISLLFLLFLFI>V<VFALLGMQLFGGRFNFN-D-----------633
CACNA1FHWASLSNLVASLLNSMKSIASLLLLLFLFI>I<IFSLLGMQLFGGKFNFD-Q-----------686
CACNA1GFLPALQRQLVVLMKTMDNVATFCMLLMLFI>F<IFSILGMHLFGCKFASER---------DG-897
CACNA1HFLPALRRQLVVLVKTMDNVATFCTLLMLFI>F<IFSILGMHLFGCKFSLKTD--------TG-948
CACNA1IFMPALRRQLVVLMKTMDNVATFCMLLMLFI>F<IFSILGMHIFGCKFSLRTD--------TG-795
CACNA1SYWTSLSNLVASLLNSIRSIASLLLLLFLFI>V<IFALLGMQLFGGRYDFE-D-----------589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F851Lc.2551T>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
p.F851Lc.2553C>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: possibly 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