Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN1A | G1754R | Dravet syndrome | Medium | 3 | 22071555 |
SCN2A | G1744R | Autism spectrum disorder | Medium | 3 | 26637798 |
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 | GWDGLLSPILNTGPPYCDPTLPN-S-NGSR>G<D---CGSPAVGILFFTTYIIISFLIVVNMY | 1767 |
SCN1A | GWDGLLAPILNSKPPDCDPNKVN-PGSSVK>G<D---CGNPSVGIFFFVSYIIISFLVVVNMY | 1781 |
SCN2A | GWDGLLAPILNSGPPDCDPDKDH-PGSSVK>G<D---CGNPSVGIFFFVSYIIISFLVVVNMY | 1771 |
SCN3A | GWDGLLAPILNSAPPDCDPDTIH-PGSSVK>G<D---CGNPSVGIFFFVSYIIISFLVVVNMY | 1766 |
SCN4A | GWDGLLNPILNSGPPDCDPNLEN-PGTSVK>G<D---CGNPSIGICFFCSYIIISFLIVVNMY | 1593 |
SCN7A | GWDGMLDAIFNSKWSDCDPDKIN-PGTQVR>G<D---CGNPSVGIFYFVSYILISWLIIVNMY | 1491 |
SCN8A | GWDGLLLPILN-RPPDCSLDKEH-PGSGFK>G<D---CGNPSVGIFFFVSYIIISFLIVVNMY | 1761 |
SCN9A | GWDGLLAPILNSKPPDCDPKKVH-PGSSVE>G<D---CGNPSVGIFYFVSYIIISFLVVVNMY | 1744 |
SCN10A | GWDGLLSPILNTGPPYCDPNLPN-S-NGTR>G<D---CGSPAVGIIFFTTYIIISFLIMVNMY | 1717 |
SCN11A | GWDSLLSPMLRSKES-CN---------SSS>E<N---CHLPGIATSYFVSYIIISFLIVVNMY | 1599 |
CACNA1A | AWHNIMLSCLSG--KPCDKNSGIL-----T>-<R--ECGN-EFAYFYFVSFIFLCSFLMLNLF | 1806 |
CACNA1B | AWHEIMLSCLSN--QACDE---Q------A>-<NATECGS-DFAYFYFVSFIFLCSFLMLNLF | 1704 |
CACNA1C | AWQDIMLACMPG--KKCAPESEP-SNSTEG>E<TP--CGS-SFAVFYFISFYMLCAFLIINLF | 1471 |
CACNA1D | AWQEIMLACLPG--KLCDPESDY--NPGE->E<YT--CGS-NFAIVYFISFYMLCAFLIINLF | 1479 |
CACNA1E | AWQEIMLSCLGE--KGCEPDTTAPSGQNEN>-<E--RCGT-DLAYVYFVSFIFFCSFLMLNLF | 1718 |
CACNA1F | AWQEIMLASLPG--NRCDPESDF--GPGE->E<FT--CGS-NFAIAYFISFFMLCAFLIINLF | 1436 |
CACNA1G | NWNGIMKDTLRD----CDQEST-----C-->-<----YNT-VISPIYFVSFVLTAQFVLVNVV | 1846 |
CACNA1H | NWNGIMKDTLRE----CSREDKH----C-->-<LS--YLP-ALSPVYFVTFVLVAQFVLVNVV | 1855 |
CACNA1I | NWNGIMKDTLRD----CTHDERS----C-->-<LS--SLQ-FVSPLYFVSFVLTAQFVLINVV | 1725 |
CACNA1S | AWQEILLACSYG--KLCDPESDY--APGE->E<YT--CGT-NFAYYYFISFYMLCAFLVINLF | 1376 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1740R | c.5218G>A | Inherited Arrhythmia | BrS | rs199473304 | SIFT: deleterious Polyphen: probably damaging |
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 | 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 | Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861 | |||
Inherited Arrhythmia | BrS | Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome. Can J Cardiol. 2004 20(4):425-30. 15057319 |