| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN4A | A1156T | Paramyotonia congenita | High | 9 | 1338909, 22926674, 7809121 |
| CACNA1A | S1373L | Encephalopathy, epileptic | Medium | 9 | 27212419 |
| SCN8A | A1323S | Epileptic encephalopathy, infantile | High | 9 | 26993267 |
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 | KSLRTLRALRPLRALSRFEGMRVVVNALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF | 1360 |
| SCN1A | KSLRTLRALRPLRALSRFEGMRVVVNALLG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF | 1373 |
| SCN2A | KSLRTLRALRPLRALSRFEGMRVVVNALLG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF | 1363 |
| SCN3A | KSLRTLRALRPLRALSRFEGMRVVVNALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF | 1361 |
| SCN4A | KSLRTLRALRPLRALSRFEGMRVVVNALLG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF | 1186 |
| SCN7A | KPLISMKFLRPLRVLSQFERMKVVVRALIK>T<TLPTLNVFLVCLMIWLIFSIMGVDLFAGRF | 1084 |
| SCN8A | KSLRTLRALRPLRALSRFEGMRVVVNALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKY | 1353 |
| SCN9A | KSLRTLRALRPLRALSRFEGMRVVVNALIG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF | 1336 |
| SCN10A | KALRTLRALRPLRALSRFEGMRVVVDALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF | 1307 |
| SCN11A | KSFRTLRALRPLRALSQFEGMKVVVNALIG>A<IPAILNVLLVCLIFWLVFCILGVYFFSGKF | 1204 |
| CACNA1A | KSLRVLRVLRPLKTIKRLPKLKAVFDCVVN>S<LKNVFNILIVYMLFMFIFAVVAVQLFKGKF | 1403 |
| CACNA1B | KSLRVLRVLRPLKTIKRLPKLKAVFDCVVN>S<LKNVLNILIVYMLFMFIFAVIAVQLFKGKF | 1309 |
| CACNA1C | KILRVLRVLRPLRAINRAKGLKHVVQCVFV>A<IRTIGNIVIVTTLLQFMFACIGVQLFKGKL | 1055 |
| CACNA1D | KILRVLRVLRPLRAINRAKGLKHVVQCVFV>A<IRTIGNIMIVTTLLQFMFACIGVQLFKGKF | 1061 |
| CACNA1E | KSLRVLRVLRPLKTIKRLPKLKAVFDCVVT>S<LKNVFNILIVYKLFMFIFAVIAVQLFKGKF | 1315 |
| CACNA1F | KILRVLRVLRPLRAINRAKGLKHVVQCVFV>A<IRTIGNIMIVTTLLQFMFACIGVQLFKGKF | 1026 |
| CACNA1G | RVLRLLRTLRPLRVISRAQGLKLVVETLMS>S<LKPIGNIVVICCAFFIIFGILGVQLFKGKF | 1438 |
| CACNA1H | RVLRLLRTLRPLRVISRAPGLKLVVETLIS>S<LRPIGNIVLICCAFFIIFGILGVQLFKGKF | 1456 |
| CACNA1I | RVLRLLRTLRPLRVISRAPGLKLVVETLIS>S<LKPIGNIVLICCAFFIIFGILGVQLFKGKF | 1332 |
| CACNA1S | KILRVLRVLRPLRAINRAKGLKHVVQCMFV>A<ISTIGNIVLVTTLLQFMFACIGVQLFKGKF | 954 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1330P | c.3988G>C | Inherited Arrhythmia | LQTS | rs199473224 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | De novo mutation in the SCN5A gene associated with early onset of sudden infant death. Circulation. 2001 104(10):1158-64. 11535573 | ||
| p.A1330T | c.3988G>A | Inherited Arrhythmia | LQTS | rs199473224 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||