Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN1A | G1757R | Dravet syndrome | High | 5 | 27465585 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.
SCN5A | SPILNTGPPYCDPTLPN-S-NGSRGD---C>G<SPAVGILFFTTYIIISFLIVVNMYIAIILE | 1773 |
SCN1A | APILNSKPPDCDPNKVN-PGSSVKGD---C>G<NPSVGIFFFVSYIIISFLVVVNMYIAVILE | 1787 |
SCN2A | APILNSGPPDCDPDKDH-PGSSVKGD---C>G<NPSVGIFFFVSYIIISFLVVVNMYIAVILE | 1777 |
SCN3A | APILNSAPPDCDPDTIH-PGSSVKGD---C>G<NPSVGIFFFVSYIIISFLVVVNMYIAVILE | 1772 |
SCN4A | NPILNSGPPDCDPNLEN-PGTSVKGD---C>G<NPSIGICFFCSYIIISFLIVVNMYIAIILE | 1599 |
SCN7A | DAIFNSKWSDCDPDKIN-PGTQVRGD---C>G<NPSVGIFYFVSYILISWLIIVNMYIVVVME | 1497 |
SCN8A | LPILN-RPPDCSLDKEH-PGSGFKGD---C>G<NPSVGIFFFVSYIIISFLIVVNMYIAIILE | 1767 |
SCN9A | APILNSKPPDCDPKKVH-PGSSVEGD---C>G<NPSVGIFYFVSYIIISFLVVVNMYIAVILE | 1750 |
SCN10A | SPILNTGPPYCDPNLPN-S-NGTRGD---C>G<SPAVGIIFFTTYIIISFLIMVNMYIAVILE | 1723 |
SCN11A | SPMLRSKES-CN---------SSSEN---C>H<LPGIATSYFVSYIIISFLIVVNMYIAVILE | 1605 |
CACNA1A | LSCLSG--KPCDKNSGIL-----T-R--EC>G<N-EFAYFYFVSFIFLCSFLMLNLFVAVIMD | 1812 |
CACNA1B | LSCLSN--QACDE---Q------A-NATEC>G<S-DFAYFYFVSFIFLCSFLMLNLFVAVIMD | 1710 |
CACNA1C | LACMPG--KKCAPESEP-SNSTEGETP--C>G<S-SFAVFYFISFYMLCAFLIINLFVAVIMD | 1477 |
CACNA1D | LACLPG--KLCDPESDY--NPGE-EYT--C>G<S-NFAIVYFISFYMLCAFLIINLFVAVIMD | 1485 |
CACNA1E | LSCLGE--KGCEPDTTAPSGQNEN-E--RC>G<T-DLAYVYFVSFIFFCSFLMLNLFVAVIMD | 1724 |
CACNA1F | LASLPG--NRCDPESDF--GPGE-EFT--C>G<S-NFAIAYFISFFMLCAFLIINLFVAVIMD | 1442 |
CACNA1G | KDTLRD----CDQEST-----C-------Y>N<T-VISPIYFVSFVLTAQFVLVNVVIAVLMK | 1852 |
CACNA1H | KDTLRE----CSREDKH----C---LS--Y>L<P-ALSPVYFVTFVLVAQFVLVNVVVAVLMK | 1861 |
CACNA1I | KDTLRD----CTHDERS----C---LS--S>L<Q-FVSPLYFVSFVLTAQFVLINVVVAVLMK | 1731 |
CACNA1S | LACSYG--KLCDPESDY--APGE-EYT--C>G<T-NFAYYYFISFYMLCAFLVINLFVAVIMD | 1382 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1743E | c.5228G>A | Inherited Arrhythmia | BrS | rs199473629 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943 | ||
Inherited Arrhythmia | BrS | Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009 6(3):341-8. 19251209 | |||
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 | Genetic and biophysical basis for bupivacaine-induced ST segment elevation and VT/VF. Anesthesia unmasked Brugada syndrome. Heart Rhythm. 2006 3(9):1074-8. 16945804 | |||
p.G1743R | c.5227G>A | Inherited Arrhythmia | BrS | rs199473305 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. Life Sci. 2003 72(21):2391-9. 12639704 | ||
Inherited Arrhythmia | BrS | A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc Res. 2004 62(1):53-62. 15023552 | |||
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 | Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing. J Am Coll Cardiol. 2012 60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. 22840528 | |||
Other Cardiac Phenotype | Loss-of-Function SCN5A Mutations Associated with Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. Circ Arrhythm Electrophysiol. 2015 26111534 |