Paralogue Annotation for SCN5A residue 567

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 567
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 567

No paralogue variants have been mapped to residue 567 for SCN5A.



SCN5A-----DFADDENSTAGESESHHTSLLVPWP>L<--RRT-SA---QGQPSPGTSA----P--GH585
SCN1A-----DFADDEHSTFEDNESRRDSLFVPRR>H<GERRN-----------SNLSQ----T--SR627
SCN2A-----DFADDEHSTFEDNDSRRDSLFVPHR>H<GERRH-----------SNVSQ----A--SR630
SCN3A-----DFADDEHSTFEDSESRRDSLFVPHR>H<GERRN-----------SNVSQ----A--SM630
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A-----EFADDEHSTVEESEGRRDSLFIPIR>A<RERRS------SYSGYSGYSQ----G--SR625
SCN9A-----EFADDEHSIFGDNESRRGSLFVPHR>P<QERRS-----------SNISQ----A--SR607
SCN10A-----GVTDDG-VFPGDHESHRGSLLLGGG>A<GQQG------------PLPRSPLPQP--SN559
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GALSGAPPGGAESVHSFYHADCHLEPVRCQA>P<P---PRSPSEASG-RTV--GS----G--KV589
CACNA1HSPGRGPPD-AESVHSIYHADCHIEGPQERA>R<VAHAAATA-AASL-R-LATGL----GTMN-612
CACNA1I-----SPGNDHSGRELCPQHSPLDATPHTL>V<QPIPA-------------------------544
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L567Qc.1700T>A Inherited ArrhythmiaBrSrs199473124SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS Brugada syndrome and sudden cardiac death in children. Lancet. 2000 355(9206):808-9. 10711933
Inherited ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
Inherited ArrhythmiaBrS Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation. 2000 102(20):2509-15. 11076825
Inherited ArrhythmiaBrS Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation. Am J Physiol Heart Circ Physiol. 2001 280(1):H354-60. 11123251
Inherited ArrhythmiaBrS Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164