Paralogue Annotation for SCN5A residue 93

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 93
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 93

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF90SMyoclonic epilepsy of infancyHigh5 18554359, 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.



SCN5ALPDLYGNPPQELIGEPLEDLDPFYSTQK-T>F<I-VLNKGKTIFRFSATNALYVLSPFHPIRR122
SCN1ALPFIYGDIPPEMVSEPLEDLDPYYINKK-T>F<I-VLNKGKAIFRFSATSALYILTPFNPLRK119
SCN2ALPFIYGDIPPEMVSVPLEDLDPYYINKK-T>F<I-VLNKGKAISRFSATPALYILTPFNPIRK120
SCN3ALPFIYGDIPPEMVSEPLEDLDPYYINKK-T>F<I-VMNKGKAIFRFSATSALYILTPLNPVRK119
SCN4ALPMIYGDPPPEVIGIPLEDLDPYYSNKK-T>F<I-VLNKGKAIFRFSATPALYLLSPFSVVRR122
SCN7ALPFIYGNLSQGMVSEPLEDVDPYYYKKKNT>F<I-VLNKNRTIFRFNAASILCTLSPFNCIRR109
SCN8ALPFIYGDIPQGLVAVPLEDFDPYYLTQK-T>F<V-VLNRGKTLFRFSATPALYILSPFNLIRR123
SCN9ALPFIYGDIPPGMVSEPLEDLDPYYADKK-T>F<I-VLNKGKTIFRFNATPALYMLSPFSPLRR117
SCN10ALPKFYGELPAELIGEPLEDLDPFYSTHR-T>F<M-VLNKGRTISRFSATRALWLFSPFNLIRR121
SCN11ALPKLYGDIPRELIGKPLEDLDPFYRNHK-T>F<M-VLNRKRTIYRFSAKHALFIFGPFNSIRS120
CACNA1A-PGA-----------QRMYKQSMAQRARTM>A<L-YNPIPVRQNCLTVNRSLFLFSEDNVVRK89
CACNA1B-PGQ-----------RVLYKQSIAQRARTM>A<L-YNPIPVKQNCFTVNRSLFVFSEDNVVRK86
CACNA1CDAARQAKLMGSAGNATISTVSST-QRKRQQ>Y<G-KPKKQGSTTATRPPRALLCLTLKNPIRR115
CACNA1DDAARQAKAAQTMSTSAPPPVGSLSQRKRQQ>Y<A-KSKKQGNSSNSRPARALFCLSLNNPIRR117
CACNA1E-SGQ-----------AAAYKQTKAQRARTM>A<L-YNPIPVRQNCFTVNRSLFIFGEDNIVRK80
CACNA1F--AV--------EGESSGASGLGTPKRRNQ>H<S-KHKTVAVASAQRSPRALFCLTLANPLRR83
CACNA1G--G-----------PGSA-------EKDPG>-<SADSEAEGLPYPALAPVVFFYLSQDSRPRS72
CACNA1H--S-----------P-AA-------ERGAE>L<G-ADEEQRVPYPALAATVFFCLGQTTRPRS91
CACNA1I-PS-----------SPPG-------LEEPL>-<D-G-ADPHVPHPDLAPIAFFCLRQTTSPRN70
CACNA1S---------------------SSPQDEGLR>K<K-QPKKPVPEILPRPPRALFCLTLENPLRK42
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F93Sc.278T>C Inherited ArrhythmiaBrSSIFT: 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