No paralogue variants have been mapped to residue 1103 for SCN5A.
SCN5A | ------GGPEAP-----PDSRTWSQVSATA>S<S------EA---------EASASQADWRQQ | 1118 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | --------------------------HQEN>K<K------PT---------SQRVQSVEIDMF | 969 |
CACNA1A | IDNMKNNKLATAESAAPHGSLGHAGLPQSP>A<KMGNSTDPGPMLAIPAMATNPQNAASRRTP | 1126 |
CACNA1B | --------------EKE--------ATEKE>A<EIVEADKEKELR-NHQPREPHCDLETSGTV | 1036 |
CACNA1C | -----------------EMPVGPRP----->-<------------------------------ | 859 |
CACNA1D | -----------------EVPAGPRP----->-<------------------------------ | 865 |
CACNA1E | -------------------------MGRVI>-<------S------QSEPDLSCITAN----- | 1059 |
CACNA1F | -----------------EEEGAGGV----->-<------------------------------ | 830 |
CACNA1G | -----------------NLSKGERV----->-<------------------------------ | 1236 |
CACNA1H | -----------------EDSCCLRL----->-<------------------------------ | 1254 |
CACNA1I | -----------------DYTLCFRV----->-<------------------------------ | 1130 |
CACNA1S | -----------------EIPLSPRP----->-<------------------------------ | 758 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1103Y | c.3308C>A | Benign | rs7626962 | SIFT: deleterious Polyphen: benign | |
Reports | Putative Benign | Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science. 2002 297(5585):1333-6. 12193783 | |||
Putative Benign | Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. Chin Med J (Engl). 2004 117(5):652-6. 15161528 | ||||
Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
Benign | 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 | ||||
Unknown | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | ||||
Unknown | SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. J Med Genet. 2002 39(12):913-5. 12471205 | ||||
Unknown | A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 116(2):430-5. 16453024 | ||||
Unknown | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609 | ||||
Unknown | Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks. Circulation. 2005 112(6):798-802. 16061744 | ||||
p.S1103F | c.3308C>T | Putative Benign | SIFT: Polyphen: |