| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | I1545V | Myoclonic epilepsy of infancy | Medium | 9 | 17347258, 22409937 |
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 | -----QKPIPRPLNKYQGFIFDIVTKQAFD>V<TIMFLICLNMVTMMVETDDQSPEKINILAK | 1562 |
| SCN1A | -----QKPIPRPGNKFQGMVFDFVTRQVFD>I<SIMILICLNMVTMMVETDDQSEYVTTILSR | 1575 |
| SCN2A | -----QKPIPRPANKFQGMVFDFVTKQVFD>I<SIMILICLNMVTMMVETDDQSQEMTNILYW | 1565 |
| SCN3A | -----QKPIPRPANKFQGMVFDFVTRQVFD>I<SIMILICLNMVTMMVETDDQGKYMTLVLSR | 1560 |
| SCN4A | -----QKPIPRPQNKIQGMVYDLVTKQAFD>I<TIMILICLNMVTMMVETDNQSQLKVDILYN | 1387 |
| SCN7A | -----QRPVPRPLNKLQGFIFDVVTSQAFN>V<IVMVLICFQAIAMMIDTDVQSLQMSIALYW | 1285 |
| SCN8A | -----QKPIPRPLNKIQGIVFDFVTQQAFD>I<VIMMLICLNMVTMMVETDTQSKQMENILYW | 1556 |
| SCN9A | -----QKPIPRPGNKIQGCIFDLVTNQAFD>I<SIMVLICLNMVTMMVEKEGQSQHMTEVLYW | 1538 |
| SCN10A | -----QKPIPRPLNKFQGFVFDIVTRQAFD>I<TIMVLICLNMITMMVETDDQSEEKTKILGK | 1510 |
| SCN11A | -----QKPIPRPLNKCQGLVFDIVTSQIFD>I<IIISLIILNMISMMAESYNQPKAMKSILDH | 1400 |
| CACNA1A | ----LTRHMPQNKQSFQYRMWQFVVSPPFE>Y<TIMAMIALNTIVLMMKFYGASVAYENALRV | 1600 |
| CACNA1B | ----LTRYMPQNRQSFQYKTWTFVVSPPFE>Y<FIMAMIALNTVVLMMKFYDAPYEYELMLKC | 1506 |
| CACNA1C | ----LRRYIPK--NQHQYKVWYVVNSTYFE>Y<LMFVLILLNTICLAMQHYGQSCLFKIAMNI | 1253 |
| CACNA1D | ----LRRYIPK--NPYQYKFWYVVNSSPFE>Y<MMFVLIMLNTLCLAMQHYEQSKMFNDAMDI | 1259 |
| CACNA1E | ----LTRYMPQNRHTFQYRVWHFVVSPSFE>Y<TIMAMIALNTVVLMMKYYSAPCTYELALKY | 1512 |
| CACNA1F | ----LRRYIPK--NPHQYRVWATVNSAAFE>Y<LMFLLILLNTVALAMQHYEQTAPFNYAMDI | 1224 |
| CACNA1G | ASEAQCKPYYSDYSRFRLLVHHLCTSHYLD>L<FITGVIGLNVVTMAMEHYQQPQILDEALKI | 1645 |
| CACNA1H | -----RRPYYADYSPTRRSIHSLCTSHYLD>L<FITFIICVNVITMSMEHYNQPKSLDEALKY | 1651 |
| CACNA1I | -----RLPYYATYCHTRLLIHSMCTSHYLD>I<FITFIICLNVVTMSLEHYNQPTSLETALKY | 1521 |
| CACNA1S | ----LRCYIPK--NPYQYQVWYIVTSSYFE>Y<LMFALIMLNTICLGMQHYNQSEQMNHISDI | 1152 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V1532I | c.4594G>A | Inherited Arrhythmia | LQTS | rs199473618 | SIFT: tolerated Polyphen: probably damaging |
| Reports | 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 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | 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 | ||||
| p.V1532A | c.4595T>C | Putative Benign | rs185950366 | SIFT: deleterious Polyphen: possibly damaging | |
| p.V1532F | c.4594G>T | Putative Benign | SIFT: Polyphen: | ||