Paralogue Annotation for SCN5A residue 681

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 681
Reference Amino Acid: H - Histidine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 681

No paralogue variants have been mapped to residue 681 for SCN5A.



SCN5A-EELE-ESR--------------------->H<K--CPPC-------------------WNR-689
SCN1A-EELE-ESR--------------------->Q<K--CPPC-------------------WYK-740
SCN2A-EELE-ESR--------------------->Q<K--CPPC-------------------WYK-731
SCN3A-EELE-ESR--------------------->Q<K--CPPC-------------------WYR-732
SCN4A-EELE-EAH--------------------->Q<K--CPPW-------------------WYK-550
SCN7A-EELE-KSK--------------------->K<I--CPLY-------------------WYK-477
SCN8A-EELE-ESQ--------------------->R<K--CPPC-------------------WYK-725
SCN9A-EELE-ESR--------------------->Q<K--CPPW-------------------WYR-705
SCN10A-EELE-ESE--------------------->Q<K--CPPC-------------------LTS-637
SCN11A-KEQE-KSQ--------------------->E<P--CLPC-------------------GEN-549
CACNA1A------------------------------>S<P--FARA-------------------SIK-459
CACNA1B------------------------------>S<P--FARA-------------------SLK-455
CACNA1C------------------------------>-<----ARL-------------------AHR-496
CACNA1D-RRGA-AKA--------------------->G<PSGCRRW-------------------GQA-515
CACNA1E------------------------------>T<P--LARA-------------------SIK-448
CACNA1F-DEDE-EEG--------------------->A<LASCTRC-------------------LNK-501
CACNA1GVELADREMP-DSDSEAVYEFTQDAQHSDLR>D<PH-SRRQ---R------------------S715
CACNA1HGELSGSESG-DSDGRGVYEFTQDVRHGDRW>D<P--TRPPRATDTPGPG---PGSPQRRAQQR766
CACNA1IGS---TDSGQEGSGSGSSAGGEDE-A---D>G<D--GARS---SEDGASSELG--KEEEEEE-613
CACNA1S-------AG--------------------->-<--------------------------LNK-406
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H681Pc.2042A>C Inherited ArrhythmiaBrSrs199473143SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
Inherited ArrhythmiaBrS A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia. J Cardiovasc Electrophysiol. 2003 14(4):407-11. 12741714