Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
CACNA1F | G1494R | Night blindness, congenital stationary, incomplete | Medium | 7 | 25307992 |
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 | EIWEKFDPEATQFIEYSVLSDFADALSEPL>R<--IAK--PNQI---SLINMDLPMVSGD-RI | 1848 |
SCN1A | EVWEKFDPDATQFMEFEKLSQFAAALEPPL>N<--LPQ--PNKL---QLIAMDLPMVSGD-RI | 1862 |
SCN2A | EVWEKFDPDATQFIEFAKLSDFADALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI | 1852 |
SCN3A | EVWEKFDPDATQFIEFSKLSDFAAALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI | 1847 |
SCN4A | ETWEKFDPDATQFIAYSRLSDFVDTLQEPL>R<--IAK--PNKI---KLITLDLPMVPGD-KI | 1674 |
SCN7A | QVWKRFDPDRTQYIDSSKLSDFAAALDPPL>F<--MAK--PNKG---QLIALDLPMAVGD-RI | 1572 |
SCN8A | EIWEKFDPDATQFIEYCKLADFADALEHPL>R<--VPK--PNTI---ELIAMDLPMVSGD-RI | 1842 |
SCN9A | EVWEKFDPDATQFIEFSKLSDFAAALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI | 1825 |
SCN10A | ETWEKFDPEATQFITFSALSDFADTLSGPL>R<--IPK--PNRN---ILIQMDLPLVPGD-KI | 1798 |
SCN11A | EVWEKFDPEATQFIKYSALSDFADALPEPL>R<--VAK--PNKY---QFLVMDLPMVSED-RL | 1680 |
CACNA1A | RVWAEYDPAACGRIHYKDMYSLLRVISPPL>G<--LGKKCPHRVACKRLLRMDLPVADD-NTV | 1891 |
CACNA1B | RVWAEYDPAACGRISYNDMFEMLKHMSPPL>G<--LGKKCPARVAYKRLVRMNMPISNEDMTV | 1790 |
CACNA1C | RIWAEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKLCPHRVACKRLVSMNMPLNSDG-TV | 1556 |
CACNA1D | RIWSEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKLCPHRVACKRLVAMNMPLNSDG-TV | 1564 |
CACNA1E | RVWAEYDRAACGRIHYTEMYEMLTLMSPPL>G<--LGKRCPSKVAYKRLVLMNMPVAED-MTV | 1803 |
CACNA1F | RIWSEYDPGAKGRIKHLDVVALLRRIQPPL>G<--FGKLCPHRVACKRLVAMNMPLNSDG-TV | 1521 |
CACNA1G | ELEMKT-LSPQPHSPLGSPF-LWPGVEGPD>S<--PDSPKPGAL---------HPAAHA-RSA | 1918 |
CACNA1H | ELEMAQGPGSARRVDADRP---------PL>P<--QESPG--AR--------DAPN------- | 1913 |
CACNA1I | ELEMAHGLGPGPRLPTGSPGAPGR---GPG>G<AGGGGDT--EG---GLCRRCYSPAQE-N-- | 1800 |
CACNA1S | AIWAEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKFCPHRVACKRLVGMNMPLNSDG-TV | 1461 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1826C | c.5476C>T | Inherited Arrhythmia | AF | rs199473635 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | AF | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609 | ||
p.R1826H | c.5477G>A | Inherited Arrhythmia | LQTS | rs137854610 | SIFT: tolerated Polyphen: probably damaging |
Reports | Other Cardiac Phenotype | Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001 286(18):2264-9. 11710892 | |||
Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
Other Cardiac Phenotype | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | ||||
Other Cardiac Phenotype | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | ||||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 |