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 |
CACNA1G | VELADREMP-DSDSEAVYEFTQDAQHSDLR>D<PH-SRRQ---R------------------S | 715 |
CACNA1H | GELSGSESG-DSDGRGVYEFTQDVRHGDRW>D<P--TRPPRATDTPGPG---PGSPQRRAQQR | 766 |
CACNA1I | GS---TDSGQEGSGSGSSAGGEDE-A---D>G<D--GARS---SEDGASSELG--KEEEEEE- | 613 |
CACNA1S | -------AG--------------------->-<--------------------------LNK- | 406 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H681P | c.2042A>C | Inherited Arrhythmia | BrS | rs199473143 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | ||
Inherited Arrhythmia | BrS | A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia. J Cardiovasc Electrophysiol. 2003 14(4):407-11. 12741714 |