Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN1A | D1608Y | Myoclonic epilepsy of infancy | High | 9 | 17561957, 24168886 |
SCN2A | D1598G | Intellectual disability, developmental delay, seiz | High | 9 | 22581936 |
SCN1A | D1608G | Myoclonic epilepsy of infancy | High | 9 | 23195492 |
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 | LFVAIFTGECIVKLAALR-HYYFTNSWNIF>D<FVVVILSIVGTVLSDIIQ------------ | 1613 |
SCN1A | VFIVLFTGECVLKLISLR-HYYFTIGWNIF>D<FVVVILSIVGMFLAELIE------------ | 1626 |
SCN2A | VFIVLFTGECVLKLISLR-YYYFTIGWNIF>D<FVVVILSIVGMFLAELIE------------ | 1616 |
SCN3A | VFIVLFTGEFVLKLVSLR-HYYFTIGWNIF>D<FVVVILSIVGMFLAEMIE------------ | 1611 |
SCN4A | IFIIIFTGECVLKMLALR-QYYFTVGWNIF>D<FVVVILSIVGLALSDLIQ------------ | 1438 |
SCN7A | IFVMLYTMECILKLIAFR-CFYFTIAWNIF>D<FMVVIFSITGLCLPMTVG------------ | 1336 |
SCN8A | VFVIFFTCECVLKMFALR-HYYFTIGWNIF>D<FVVVILSIVGMFLADIIE------------ | 1607 |
SCN9A | VFIILFTGECVLKLISLR-HYYFTVGWNIF>D<FVVVIISIVGMFLADLIE------------ | 1589 |
SCN10A | FFVAVFTGECVMKMFALR-QYYFTNGWNVF>D<FIVVVLSIASLIFSAILKS----------- | 1562 |
SCN11A | VFVVIFTLECLIKIFALR-QYYFTNGWNLF>D<CVVVLLSIVSTMISTLENQ----------- | 1452 |
CACNA1A | VFTSLFSLECVLKVMAFGILNYFRDAWNIF>D<FVTVLGSITDILVTEFGNN----------- | 1653 |
CACNA1B | VFTSMFSMECVLKIIAFGVLNYFRDAWNVF>D<FVTVLGSITDILVTEIAET----------- | 1559 |
CACNA1C | LFTGLFTVEMILKLIAFKPKHYFCDAWNTF>D<ALIVVGSIVDIAITEVNPAE----HTQ--- | 1310 |
CACNA1D | VFTGVFTVEMVLKVIAFKPKGYFSDAWNTF>D<SLIVIGSIIDVALSEADPTE----SENVPV | 1319 |
CACNA1E | AFTMVFSLECVLKVIAFGFLNYFRDTWNIF>D<FITVIGSITEIILTDSKLV----------- | 1565 |
CACNA1F | VFTGLFTIEMVLKIIAFKPKHYFTDAWNTF>D<ALIVVGSIVDIAVTEVNNGG----HLG--- | 1281 |
CACNA1G | IFTVIFVLESVFKLVAFGFRRFFQDRWNQL>D<LAIVLLSIMGITLEEIEVN----------- | 1698 |
CACNA1H | VFTIVFVFEAALKLVAFGFRRFFKDRWNQL>D<LAIVLLSLMGITLEEIEMS----------- | 1704 |
CACNA1I | MFTTVFVLEAVLKLVAFGLRRFFKDRWNQL>D<LAIVLLSVMGITLEEIEIN----------- | 1574 |
CACNA1S | AFTIIFTLEMILKLMAFKARGYFGDPWNVF>D<FLIVIGSIIDVILSEIDTFLASSGGLYCLG | 1216 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1595H | c.4783G>C | Cardiomyopathy | DCM | rs137854607 | SIFT: deleterious Polyphen: probably damaging |
Reports | Cardiomyopathy | DCM | Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005 293(4):447-54. 15671429 | ||
Cardiomyopathy | DCM | Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. Circ Res. 2008 102(3):364-71. 18048769 | |||
p.D1595N | c.4783G>A | Other Cardiac Phenotype | rs137854607 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Other Cardiac Phenotype | Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation. 2002 105(3):341-6. 11804990 |