Paralogue Annotation for SCN5A residue 559

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 559
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 559

No paralogue variants have been mapped to residue 559 for SCN5A.



SCN5A---SEA-------DFADDENSTAGESESHH>T<SLLVPWPL--RRT-SA---QGQPSPGTSA-582
SCN1A---SEN-------DFADDEHSTFEDNESRR>D<SLFVPRRHGERRN-----------SNLSQ-624
SCN2A---SEN-------DFADDEHSTFEDNDSRR>D<SLFVPHRHGERRH-----------SNVSQ-627
SCN3A---SEN-------DFADDEHSTFEDSESRR>D<SLFVPHRHGERRN-----------SNVSQ-627
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A---SEN-------EFADDEHSTVEESEGRR>D<SLFIPIRARERRS------SYSGYSGYSQ-622
SCN9A---SET-------EFADDEHSIFGDNESRR>G<SLFVPHRPQERRS-----------SNISQ-604
SCN10A---LPE-------GVTDDG-VFPGDHESHR>G<SLLLGGGAGQQG------------PLPRSP553
SCN11A------------------------------>-<------------------------------
CACNA1A---SKT------------------------>-<------------------------------431
CACNA1B---SRN------------------------>-<------------------------------427
CACNA1C---SET------------------------>-<------------------------------471
CACNA1D---SET------------------------>-<------------------------------471
CACNA1E---SRT------------------------>-<------------------------------420
CACNA1FRWFSHS------------------------>-<------------------------------457
CACNA1G---PS-TPALSGAPPGGAESVHSFYHADCH>L<EPVRCQAPP---PRSPSEASG-RTV--GS-586
CACNA1H---PPSPPSPGRGPPD-AESVHSIYHADCH>I<EGPQERARVAHAAATA-AASL-R-LATGL-608
CACNA1I----A--------SPGNDHSGRELCPQHSP>L<DATPHTLVQPIPA-----------------544
CACNA1S---SDT------------------------>-<------------------------------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T559Ic.1676C>T Other Cardiac Phenotypers199473575SIFT: deleterious
Polyphen: benign
ReportsOther Cardiac Phenotype Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort. Circ J. 2008 72(4):592-7. 18362431
p.T559Rc.1676C>G Putative BenignSIFT:
Polyphen: