Paralogue Annotation for SCN5A residue 543

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 543
Reference Amino Acid: F - Phenylalanine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 543

No paralogue variants have been mapped to residue 543 for SCN5A.



SCN5A-FRR-----R-DLG-----SEA-------D>F<ADDENSTAGESESHHTSLLVPWPL--RRT-570
SCN1A-FRG---RAK-DVG-----SEN-------D>F<ADDEHSTFEDNESRRDSLFVPRRHGERRN-619
SCN2A-FRG---RAK-DIG-----SEN-------D>F<ADDEHSTFEDNDSRRDSLFVPHRHGERRH-622
SCN3A-FRG---RAK-DVG-----SEN-------D>F<ADDEHSTFEDSESRRDSLFVPHRHGERRN-622
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A-FRGPG-RFR-DPG-----SEN-------E>F<ADDEHSTVEESEGRRDSLFIPIRARERRS-612
SCN9A-FKG---RGR-DIG-----SET-------E>F<ADDEHSIFGDNESRRGSLFVPHRPQERRS-599
SCN10A-FRS---PGR-DIS-----LPE-------G>V<TDDG-VFPGDHESHRGSLLLGGGAGQQG--547
SCN11A------------------------------>-<------------------------------
CACNA1A-TTI---K-K---------SKT-------->-<------------------------------431
CACNA1B-AAT---K-K---------SRN-------->-<------------------------------427
CACNA1C-MSM---P-----T-----SET-------->-<------------------------------471
CACNA1D-TSM---P-----T-----SET-------->-<------------------------------471
CACNA1E-ATI---K-R---------SRT-------->-<------------------------------420
CACNA1F-AEL---T-NRRRGRLRWFSHS-------->-<------------------------------457
CACNA1GGSRRLMLP-P---------PS-TPALSGAP>P<GGAESVHSFYHADCHLEPVRCQAPP---PR574
CACNA1HR-----AG-A---------PPSPPSPGRGP>P<D-AESVHSIYHADCHIEGPQERARVAHAAA596
CACNA1I--------------------A--------S>P<GNDHSGRELCPQHSPLDATPHTLVQPIPA-544
CACNA1S-LDE---G-----G-----SDT-------->-<------------------------------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F543Lc.1629T>A Inherited ArrhythmiaBrSrs199473122SIFT: 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