No paralogue variants have been mapped to residue 1832 for SCN5A.
SCN5A | TQFIEYSVLSDFADALSEPLR--IAK--PN>Q<I---SLINMDLPMVSGD-RIHCMDILFAFT | 1858 |
SCN1A | TQFMEFEKLSQFAAALEPPLN--LPQ--PN>K<L---QLIAMDLPMVSGD-RIHCLDILFAFT | 1872 |
SCN2A | TQFIEFAKLSDFADALDPPLL--IAK--PN>K<V---QLIAMDLPMVSGD-RIHCLDILFAFT | 1862 |
SCN3A | TQFIEFSKLSDFAAALDPPLL--IAK--PN>K<V---QLIAMDLPMVSGD-RIHCLDILFAFT | 1857 |
SCN4A | TQFIAYSRLSDFVDTLQEPLR--IAK--PN>K<I---KLITLDLPMVPGD-KIHCLDILFALT | 1684 |
SCN7A | TQYIDSSKLSDFAAALDPPLF--MAK--PN>K<G---QLIALDLPMAVGD-RIHCLDILLAFT | 1582 |
SCN8A | TQFIEYCKLADFADALEHPLR--VPK--PN>T<I---ELIAMDLPMVSGD-RIHCLDILFAFT | 1852 |
SCN9A | TQFIEFSKLSDFAAALDPPLL--IAK--PN>K<V---QLIAMDLPMVSGD-RIHCLDILFAFT | 1835 |
SCN10A | TQFITFSALSDFADTLSGPLR--IPK--PN>R<N---ILIQMDLPLVPGD-KIHCLDILFAFT | 1808 |
SCN11A | TQFIKYSALSDFADALPEPLR--VAK--PN>K<Y---QFLVMDLPMVSED-RLHCMDILFAFT | 1690 |
CACNA1A | CGRIHYKDMYSLLRVISPPLG--LGKKCPH>R<VACKRLLRMDLPVADD-NTVHFNSTLMALI | 1901 |
CACNA1B | CGRISYNDMFEMLKHMSPPLG--LGKKCPA>R<VAYKRLVRMNMPISNEDMTVHFTSTLMALI | 1800 |
CACNA1C | KGRIKHLDVVTLLRRIQPPLG--FGKLCPH>R<VACKRLVSMNMPLNSDG-TVMFNATLFALV | 1566 |
CACNA1D | KGRIKHLDVVTLLRRIQPPLG--FGKLCPH>R<VACKRLVAMNMPLNSDG-TVMFNATLFALV | 1574 |
CACNA1E | CGRIHYTEMYEMLTLMSPPLG--LGKRCPS>K<VAYKRLVLMNMPVAED-MTVHFTSTLMALI | 1813 |
CACNA1F | KGRIKHLDVVALLRRIQPPLG--FGKLCPH>R<VACKRLVAMNMPLNSDG-TVTFNATLFALV | 1531 |
CACNA1G | QPHSPLGSPF-LWPGVEGPDS--PDSPKPG>A<L---------HPAAHA-RSASHFSLEHPTD | 1928 |
CACNA1H | ARRVDADRP---------PLP--QESPG-->A<R--------DAPN---------------LV | 1915 |
CACNA1I | GPRLPTGSPGAPGR---GPGGAGGGGDT-->E<G---GLCRRCYSPAQE-N--LWLDSVSLII | 1810 |
CACNA1S | KGRIKHLDVVTLLRRIQPPLG--FGKFCPH>R<VACKRLVGMNMPLNSDG-TVTFNATLFALV | 1471 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1832E | c.5494C>G | Inherited Arrhythmia | BrS | rs199473320 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | Gene symbol: SCN5A. Disease: Brugada syndrome. Hum Genet. 2005 118(3-4):536. 16521247 | ||
Inherited Arrhythmia | BrS | 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 | |||
Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
Other Disease Phenotype | Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684 |