Paralogue Annotation for SCN5A residue 1103

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1103
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1103

No paralogue variants have been mapped to residue 1103 for SCN5A.



SCN5A------GGPEAP-----PDSRTWSQVSATA>S<S------EA---------EASASQADWRQQ1118
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
SCN10A------------------------------>-<------------------------------
SCN11A--------------------------HQEN>K<K------PT---------SQRVQSVEIDMF969
CACNA1AIDNMKNNKLATAESAAPHGSLGHAGLPQSP>A<KMGNSTDPGPMLAIPAMATNPQNAASRRTP1126
CACNA1B--------------EKE--------ATEKE>A<EIVEADKEKELR-NHQPREPHCDLETSGTV1036
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                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1103Yc.3308C>A BenignSIFT: deleterious
Polyphen: benign
ReportsPutative 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.S1103Fc.3308C>T Putative BenignSIFT:
Polyphen: