Paralogue Annotation for SCN5A residue 586

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 586
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 586

No paralogue variants have been mapped to residue 586 for SCN5A.



SCN5A--RRT-SA---QGQPSPGTSA----P--GH>A<LHGKKNSTV------------DCNGVVSLL604
SCN1AGERRN-----------SNLSQ----T--SR>S<SRMLAVFPAN----GKMHSTVDCNGVVSLV654
SCN2AGERRH-----------SNVSQ----A--SR>A<SRVLPILPMN----GKMHSAVDCNGVVSLV657
SCN3AGERRN-----------SNVSQ----A--SM>S<SRMVPGLPAN----GKMHSTVDCNGVVSLV657
SCN4A------------------------------>-<-------PAH----GK-----DCNGSLDTS513
SCN7A------------------------------>-<------------------------------
SCN8ARERRS------SYSGYSGYSQ----G--SR>S<SRIFPSLRRS----VKRNSTVDCNGVVSLI652
SCN9AQERRS-----------SNISQ----A--SR>S<P---PMLPVN----GKMHSAVDCNGVVSLV631
SCN10AGQQG------------PLPRSPLPQP--SN>P<------D---------------------SR563
SCN11A------------------------------>-<---------------------DCQKKPQLL495
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GP---PRSPSEASG-RTV--GS----G--KV>Y<PTVHTSPPPETLKEKALVEVAASSGPPTLT620
CACNA1HVAHAAATA-AASL-R-LATGL----GTMN->Y<PTILPSGVGSGKGSTSPGPKGKWAGGPPGT643
CACNA1IQPIPA------------------------->-<---------------------TLAS-----548
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A586Tc.1756G>A Inherited ArrhythmiaBrSrs199473129SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465
p.A586Gc.1757C>G Putative BenignSIFT:
Polyphen: