Paralogue Annotation for SCN5A residue 1672

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1672
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1672

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1685DMyoclonic epilepsy of infancyMedium9 12566275, 22525008
SCN1AA1685VFebrile seizuresMedium9 11524484, 14672992, 22525008

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.



SCN5AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>S<IFGMANFAYVKW-----EAG-----IDDMF1692
SCN1AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKR-----EVG-----IDDMF1705
SCN2AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKR-----EVG-----IDDMF1695
SCN3AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKK-----EAG-----IDDMF1690
SCN4AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>S<IFGMSNFAYVKK-----ESG-----IDDMF1517
SCN7AVFHNLMLPLMLSLPALLNIILLIFLVMFIY>A<VFGMYNFAYVKK-----EAG-----INDVS1415
SCN8AGIRTLLFALMMSLPALFNIGLLLFLVMFIF>S<IFGMSNFAYVKH-----EAG-----IDDMF1686
SCN9AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKK-----EDG-----INDMF1668
SCN10AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>S<IFGMSSFPHVRW-----EAG-----IDDMF1642
SCN11AGIRTLLFALMMSLPSLFNIGLLLFLIMFIY>A<ILGMNWFSKVNP-----ESG-----IDDIF1532
CACNA1ATIRILLWTFVQSFKALPYVCLLIAMLFFIY>A<IIGMQVFGNIGIDVEDEDSDEDEFQITEHN1737
CACNA1BTIRILLWTFVQSFKALPYVCLLIAMLFFIY>A<IIGMQVFGNIALDD---DTS-----INRHN1637
CACNA1CGIRTLLWTFIKSFQALPYVALLIVMLFFIY>A<VIGMQVFGKIALND---TTE-----INRNN1397
CACNA1DGIRTLLWTFIKSFQALPYVALLIAMLFFIY>A<VIGMQMFGKVAMRD---NNQ-----INRNN1407
CACNA1ETIRILLWTFVQSFKALPYVCLLIAMLFFIY>A<IIGMQVFGNIKLDE---ESH-----INRHN1644
CACNA1FGIRTLLWTFIKSFQALPYVALLIAMIFFIY>A<VIGMQMFGKVALQD---GTQ-----INRNN1364
CACNA1GGMRALLDTVMQALPQVGNLGLLFMLLFFIF>A<ALGVELFGDLECDET---HP--CEGLGRHA1783
CACNA1HGMRALLDTVVQALPQVGNLGLLFMLLFFIY>A<ALGVELFGRLECSED---NP--CEGLSRHA1789
CACNA1IGMRALLDTVVQALPQVGNLGLLFMLLFFIY>A<ALGVELFGKLVCNDE---NP--CEGMSRHA1659
CACNA1SGVRTLLWTFIKSFQALPYVALLIVMLFFIY>A<VIGMQMFGKIALVD---GTQ-----INRNN1304
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1672Yc.5015C>A Inherited ArrhythmiaBrSrs199473626SIFT: 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