Paralogue Annotation for SCN5A residue 573

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 573
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 573

No paralogue variants have been mapped to residue 573 for SCN5A.



SCN5ASTAGESESHHTSLLVPWPL--RRT-SA--->Q<GQPSPGTSA----P--GHALHGKKNSTV--595
SCN1ASTFEDNESRRDSLFVPRRHGERRN------>-<----SNLSQ----T--SRSSRMLAVFPAN-638
SCN2ASTFEDNDSRRDSLFVPHRHGERRH------>-<----SNVSQ----A--SRASRVLPILPMN-641
SCN3ASTFEDSESRRDSLFVPHRHGERRN------>-<----SNVSQ----A--SMSSRMVPGLPAN-641
SCN4A------------------------------>-<--------------------------PAH-502
SCN7A------------------------------>-<------------------------------
SCN8ASTVEESEGRRDSLFIPIRARERRS------>S<YSGYSGYSQ----G--SRSSRIFPSLRRS-636
SCN9ASIFGDNESRRGSLFVPHRPQERRS------>-<----SNISQ----A--SRSP---PMLPVN-615
SCN10AVFPGDHESHRGSLLLGGGAGQQG------->-<----PLPRSPLPQP--SNP------D----561
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GVHSFYHADCHLEPVRCQAPP---PRSPSEA>S<G-RTV--GS----G--KVYPTVHTSPPPET601
CACNA1HVHSIYHADCHIEGPQERARVAHAAATA-AA>S<L-R-LATGL----GTMN-YPTILPSGVGSG624
CACNA1IGRELCPQHSPLDATPHTLVQPIPA------>-<------------------------------544
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q573Ec.1717C>G Inherited ArrhythmiaLQTSrs199473127SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
Inherited ArrhythmiaLQTS Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease. Circulation. 2012 126(17):2084-94. doi: 10.1161/CIRCULATIONAHA.112.1 23008441