Paralogue Annotation for SCN5A residue 1344

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1344
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1344

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1357LIntractable epilepsyHigh9 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.



SCN5ALSRFEGMRVVVNALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFGRCINQTEGDL-P-1372
SCN1ALSRFEGMRVVVNALLGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYHCINTTTGDR---1384
SCN2ALSRFEGMRVVVNALLGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYHCINYTTGEM---1374
SCN3ALSRFEGMRVVVNALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYHCVNMTTGNM---1372
SCN4ALSRFEGMRVVVNALLGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYYCINTTTSER---1197
SCN7ALSQFERMKVVVRALIKTTLPTLNVFLVCLM>I<WLIFSIMGVDLFAGRFYECIDPTSGER---1095
SCN8ALSRFEGMRVVVNALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKYHYCFNETSEIR---1364
SCN9ALSRFEGMRVVVNALIGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFYECINTTDGSR---1347
SCN10ALSRFEGMRVVVDALVGAIPSIMNVLLVCLI>F<WLIFSIMGVNLFAGKFWRCINYTDGEF-SL1320
SCN11ALSQFEGMKVVVNALIGAIPAILNVLLVCLI>F<WLVFCILGVYFFSGKFGKCINGTDSVI---1215
CACNA1AIKRLPKLKAVFDCVVNSLKNVFNILIVYML>F<MFIFAVVAVQLFKGKFFHCTDESKEFEKDC1417
CACNA1BIKRLPKLKAVFDCVVNSLKNVLNILIVYML>F<MFIFAVIAVQLFKGKFFYCTDESKELERDC1323
CACNA1CINRAKGLKHVVQCVFVAIRTIGNIVIVTTL>L<QFMFACIGVQLFKGKLYTCSDSSKQTEAEC1069
CACNA1DINRAKGLKHVVQCVFVAIRTIGNIMIVTTL>L<QFMFACIGVQLFKGKFYRCTDEAKSNPEEC1075
CACNA1EIKRLPKLKAVFDCVVTSLKNVFNILIVYKL>F<MFIFAVIAVQLFKGKFFYCTDSSKDTEKEC1329
CACNA1FINRAKGLKHVVQCVFVAIRTIGNIMIVTTL>L<QFMFACIGVQLFKGKFYTCTDEAKHTPQEC1040
CACNA1GISRAQGLKLVVETLMSSLKPIGNIVVICCA>F<FIIFGILGVQLFKGKFFVCQGED-------1445
CACNA1HISRAPGLKLVVETLISSLRPIGNIVLICCA>F<FIIFGILGVQLFKGKFYYCEGPD-------1463
CACNA1IISRAPGLKLVVETLISSLKPIGNIVLICCA>F<FIIFGILGVQLFKGKFYHCLGVD-------1339
CACNA1SINRAKGLKHVVQCMFVAISTIGNIVLVTTL>L<QFMFACIGVQLFKGKFFRCTDLSKMTEEEC968
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1344Lc.4030T>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
p.F1344Sc.4031T>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. Cardiovasc Res. 2006 70(3):521-9. 16616735