| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CACNA1F | G369D | Night blindness, congenital stationary, incomplete | High | 9 | 9662399, 14973233, 15634789 |
| SCN1A | A420V | Generalized epilepsy with febrile seizures plus | Medium | 9 | 22944210, 26096185 |
| CACNA1D | G403D | Primary aldosteronism | High | 9 | 23913001 |
| SCN8A | A408T | Epileptic encephalopathy, early infantile with mov | Medium | 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 CACNA1C.
| CACNA1C | VNDAVGRDWPWIYFVTLIIIGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKLREKQQLEE | 432 |
| CACNA1A | SNDASGNTWNWLYFIPLIIIGSFFMLNLVL>G<VLSGEFAKERERVENRRAFLKLRRQQQIER | 387 |
| CACNA1B | TNDAAGNTWNWLYFIPLIIIGSFFMLNLVL>G<VLSGEFAKERERVENRRAFLKLRRQQQIER | 383 |
| CACNA1D | VNDAIGWEWPWVYFVSLIILGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKLREKQQLEE | 433 |
| CACNA1E | TNDALGATWNWLYFIPLIIIGSFFVLNLVL>G<VLSGEFAKERERVENRRAFMKLRRQQQIER | 378 |
| CACNA1F | MQDAMGYELPWVYFVSLVIFGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKQREKQQMEE | 399 |
| CACNA1G | VMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQRESQLMREQRVRFLSNAST | 422 |
| CACNA1H | VMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQRESQLMREQRARHLSNDST | 446 |
| CACNA1I | VMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQREHRLMLEQRQRYLS-SST | 424 |
| CACNA1S | VNDAIGNEWPWIYFVTLILLGSFFILNLVL>G<VLSGEFTKEREKAKSRGTFQKLREKQQLDE | 361 |
| SCN10A | TLRTSGKIY-MIFFVLVIFLGSFYLVNLIL>A<VVTMAYEEQNQATTDEIEAK-EKKFQEALE | 423 |
| SCN11A | TLRTTGLYS-VFFFIVVIFLGSFYLINLTL>A<VVTMAYEEQNKNVAAEIEAK-EKMFQEAQQ | 426 |
| SCN1A | TLRAAGKTY-MIFFVLVIFLGSFYLINLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMIE | 449 |
| SCN2A | TLRAAGKTY-MIFFVLVIFLGSFYLINLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMLE | 451 |
| SCN3A | TLRAAGKTY-MIFFVLVIFLGSFYLVNLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMLE | 450 |
| SCN4A | TLRAAGKTY-MIFFVVIIFLGSFYLINLIL>A<VVAMAYAEQNEATLAEDKEK-EEEFQQMLE | 473 |
| SCN5A | TLRSAGKIY-MIFFMLVIFLGSFYLVNLIL>A<VVAMAYEEQNQATIAETEEK-EKRFQEAME | 439 |
| SCN7A | ILYASGKVY-MIFFVVVSFLFSFYMASLFL>G<ILAMAYEEEKQRVGEISKKI-EPKFQQTGK | 420 |
| SCN8A | TLRAAGKTY-MIFFVLVIFVGSFYLVNLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFKAMLE | 437 |
| SCN9A | TLRAAGKTY-MIFFVVVIFLGSFYLINLIL>A<VVAMAYEEQNQANIEEAKQK-ELEFQQMLD | 428 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G402S | c.1204G>A | Inherited Arrhythmia | LQTS | rs80315385 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 discussion 8086-8. 15863612 | ||
| Inherited Arrhythmia | LQTS | Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. J Biol Chem. 2011 286(36):31557-64. 21685391 | |||
| Inherited Arrhythmia | LQTS | A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. Mol Psychiatry. 2013 23979604 | |||
| Inherited Arrhythmia | LQTS | Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). BMC Med Genet. 2014 15:48. doi: 10.1186/1471-2350-15-48. 24773605 | |||
| Inherited Arrhythmia | LQTS | Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. Am J Med Genet A. 2015 167A(3):629-34. doi: 10.1002/ajmg.a.36924. 25691416 | |||