Paralogue Annotation for SCN5A residue 109

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 109
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 109

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FR70WNight blindness, congenital stationary 2Medium8 23714322
SCN1AS106FDravet syndromeMedium8 24902755

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.



SCN5AEDLDPFYSTQK-TFI-VLNKGKTIFRFSAT>N<ALYVLSPFHPIRRAAVKILVHSLFNMLIMC139
SCN1AEDLDPYYINKK-TFI-VLNKGKAIFRFSAT>S<ALYILTPFNPLRKIAIKILVHSLFSMLIMC136
SCN2AEDLDPYYINKK-TFI-VLNKGKAISRFSAT>P<ALYILTPFNPIRKLAIKILVHSLFNMLIMC137
SCN3AEDLDPYYINKK-TFI-VMNKGKAIFRFSAT>S<ALYILTPLNPVRKIAIKILVHSLFSMLIMC136
SCN4AEDLDPYYSNKK-TFI-VLNKGKAIFRFSAT>P<ALYLLSPFSVVRRGAIKVLIHALFSMFIMI139
SCN7AEDVDPYYYKKKNTFI-VLNKNRTIFRFNAA>S<ILCTLSPFNCIRRTTIKVLVHPFFQLFILI126
SCN8AEDFDPYYLTQK-TFV-VLNRGKTLFRFSAT>P<ALYILSPFNLIRRIAIKILIHSVFSMIIMC140
SCN9AEDLDPYYADKK-TFI-VLNKGKTIFRFNAT>P<ALYMLSPFSPLRRISIKILVHSLFSMLIMC134
SCN10AEDLDPFYSTHR-TFM-VLNKGRTISRFSAT>R<ALWLFSPFNLIRRTAIKVSVHSWFSLFITV138
SCN11AEDLDPFYRNHK-TFM-VLNRKRTIYRFSAK>H<ALFIFGPFNSIRSLAIRVSVHSLFSMFIIG137
CACNA1AMYKQSMAQRARTMAL-YNPIPVRQNCLTVN>R<SLFLFSEDNVVRKYAKKITEWPPFEYMILA106
CACNA1BLYKQSIAQRARTMAL-YNPIPVKQNCFTVN>R<SLFVFSEDNVVRKYAKRITEWPPFEYMILA103
CACNA1CSTVSST-QRKRQQYG-KPKKQGSTTATRPP>R<ALLCLTLKNPIRRACISIVEWKPFEIIILL132
CACNA1DPPVGSLSQRKRQQYA-KSKKQGNSSNSRPA>R<ALFCLSLNNPIRRACISIVEWKPFDIFILL134
CACNA1EAYKQTKAQRARTMAL-YNPIPVRQNCFTVN>R<SLFIFGEDNIVRKYAKKLIDWPPFEYMILA97
CACNA1FGASGLGTPKRRNQHS-KHKTVAVASAQRSP>R<ALFCLTLANPLRRSCISIVEWKPFDILILL100
CACNA1GA-------EKDPG-SADSEAEGLPYPALAP>V<VFFYLSQDSRPRSWCLRTVCNPWFERISML89
CACNA1HA-------ERGAELG-ADEEQRVPYPALAA>T<VFFCLGQTTRPRSWCLRLVCNPWFEHVSML108
CACNA1IG-------LEEPL-D-G-ADPHVPHPDLAP>I<AFFCLRQTTSPRNWCIKMVCNPWFECVSML87
CACNA1S----SSPQDEGLRKK-QPKKPVPEILPRPP>R<ALFCLTLENPLRKACISIVEWKPFETIILL59
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N109Kc.327C>A Inherited ArrhythmiaBrSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):531-9. 19843921
Inherited 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