Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN4A | D1069Y | Myopathy, congenital | High | 9 | 26700687 |
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 | FMILLSSGALAFEDIYLEERKTIKVLLEYA>D<KMFTYVFVLEMLLKWVAYGF----KKYFTN | 1269 |
SCN1A | FMILLSSGALAFEDIYIDQRKTIKTMLEYA>D<KVFTYIFILEMLLKWVAYGY----QTYFTN | 1282 |
SCN2A | FMILLSSGALAFEDIYIEQRKTIKTMLEYA>D<KVFTYIFILEMLLKWVAYGF----QVYFTN | 1272 |
SCN3A | FMILLSSGALAFEDIYIEQRKTIKTMLEYA>D<KVFTYIFILEMLLKWVAYGF----QTYFTN | 1270 |
SCN4A | FMILLSSGALAFEDIYIEQRRVIRTILEYA>D<KVFTYIFIMEMLLKWVAYGF----KVYFTN | 1095 |
SCN7A | LVTLLSTGTLAFEDIYMDQRKTIKILLEYA>D<MIFTYIFILEMLLKWMAYGF----KAYFSN | 998 |
SCN8A | FMILLSSGALAFEDIYIEQRKTIRTILEYA>D<KVFTYIFILEMLLKWTAYGF----VKFFTN | 1262 |
SCN9A | LMILLSSGALAFEDIYIERKKTIKIILEYA>D<KIFTYIFILEMLLKWIAYGY----KTYFTN | 1245 |
SCN10A | FMILLSSGSLAFEDYYLDQKPTVKALLEYT>D<RVFTFIFVFEMLLKWVAYGF----KKYFTN | 1216 |
SCN11A | FVILLSSGALIFEDVHLENQPKIQELLNCT>D<IIFTHIFILEMVLKWVAFGF----GKYFTS | 1120 |
CACNA1A | MVIAMSSIALAAEDPV-QPNAPRNNVLRYF>D<YVFTGVFTFEMVIKMIDLGLVLHQGAYFRD | 1311 |
CACNA1B | VVIALSSIALAAEDPV-RTDSPRNNALKYL>D<YIFTGVFTFEMVIKMIDLGLLLHPGAYFRD | 1218 |
CACNA1C | FFILLSSISLAAEDPV-QHTSFRNHILFYF>D<IVFTTIFTIEIALKMTAYGAFLHKGSFCRN | 967 |
CACNA1D | VFIMLSSAALAAEDPI-RSHSFRNTILGYF>D<YAFTAIFTVEILLKMTTFGAFLHKGAFCRN | 973 |
CACNA1E | LVIAASSIALAAEDPV-LTNSERNKVLRYF>D<YVFTGVFTFEMVIKMIDQGLILQDGSYFRD | 1220 |
CACNA1F | VFIILSSVSLAAEDPI-RAHSFRNHILGYF>D<YAFTSIFTVEILLKMTVFGAFLHRGSFCRS | 938 |
CACNA1G | VIIFLNCITIAMERPKIDPHSAERIFLTLS>N<YIFTAVFLAEMTVKVVALGWCFGEQAYLRS | 1344 |
CACNA1H | VFIFLNCVTIALERPDIDPGSTERVFLSVS>N<YIFTAIFVAEMMVKVVALGLLSGEHAYLQS | 1362 |
CACNA1I | AFIFLNCITIALERPQIEAGSTERIFLTVS>N<YIFTAIFVGEMTLKVVSLGLYFGEQAYLRS | 1238 |
CACNA1S | LFILLSSAALAAEDPI-RADSMRNQILKHF>D<IGFTSVFTVEIVLKMTTYGAFLHKGSFCRN | 866 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1243N | c.3727G>A | Inherited Arrhythmia | BrS | rs199473599 | SIFT: deleterious Polyphen: probably damaging |
Reports | 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 | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
Inherited Arrhythmia | BrS | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | |||
Inherited Arrhythmia | BrS | Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. PLoS One. 2015 10(7):e0132888. doi: 10.1371/journal.pone.0132888. 26173111 |