| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN2A | I1473M | Neonatal-infantile seizures | High | 9 | 19786696, 25525159 |
| SCN1A | I1483M | Epilepsy ? | High | 9 | 21248271 |
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 | YNYRVEISIFFIIYIIIIAFFMMNIFVGFV>I<VTFQEQGEQE----YKNCELDKNQR----- | 1187 |
| CACNA1A | PGYRMEMSIFYVVYFVVFPFFFVNIFVALI>I<ITFQEQGDKM----MEEYSLEKNER----- | 1532 |
| CACNA1B | PGYRMELSIFYVVYFVVFPFFFVNIFVALI>I<ITFQEQGDKV----MSECSLEKNER----- | 1438 |
| CACNA1D | YNHRVEISIFFIIYIIIVAFFMMNIFVGFV>I<VTFQEQGEKE----YKNCELDKNQR----- | 1193 |
| CACNA1E | RSNRMEMSIFYVVYFVVFPFFFVNIFVALI>I<ITFQEQGDKM----MEECSLEKNER----- | 1444 |
| CACNA1F | YNYRVEISVFFIVYIIIIAFFMMNIFVGFV>I<ITFRAQGEQE----YQNCELDKNQR----- | 1158 |
| CACNA1G | MNHNPWMLLYFISFLLIVAFFVLNMFVGVV>V<ENFHKCRQHQEEEEARRREEKRLRRLEKKR | 1567 |
| CACNA1H | QNHNPWMLLYFISFLLIVSFFVLNMFVGVV>V<ENFHKCRQHQEAEEARRREEK--------- | 1576 |
| CACNA1I | TNHNPWMLLYFISFLLIVSFFVLNMFVGVV>V<ENFHKCRQHQEAEEARRREEK--------- | 1452 |
| CACNA1S | YNNRVEMAIFFIIYIILIAFFMMNIFVGFV>I<VTFQEQGETE----YKNCELDKNQR----- | 1086 |
| SCN10A | WEDNVYMYLYFVIFIIFGGFFTLNLFVGVI>I<DNFNQQKKKLGGQDIFMTEEQKKYY----- | 1443 |
| SCN11A | FESNSLGYIYFVVFIIFGSFFTLNLFIGVI>I<DNFNQQQKKLGGQDIFMTEEQKKYY----- | 1333 |
| SCN1A | YEESLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY----- | 1508 |
| SCN2A | YEDNLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY----- | 1498 |
| SCN3A | YEENLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY----- | 1493 |
| SCN4A | YEVNLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKLGGKDIFMTEEQKKYY----- | 1320 |
| SCN5A | WEYNLYMYIYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKLGGQDIFMTEEQKKYY----- | 1495 |
| SCN7A | FEVNIYMYCYFINFIIFGVFLPLSMLITVI>I<DNFNKHKIKLGGSNIFITVKQRKQY----- | 1218 |
| SCN8A | YEDNIYMYIYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY----- | 1489 |
| SCN9A | YEYSLYMYIYFVVFIIFGSFFTLNLFIGVI>I<DNFNQQKKKLGGQDIFMTEEQKKYY----- | 1471 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I1166T | c.3497T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Dentition abnormalities in a Timothy syndrome patient with a novel genetic mutation: a case report. Pediatr Dent. 2014 36(3):245-9. 24960393 | ||
| Inherited Arrhythmia | LQTS | Novel Timothy syndrome mutation leading to increase in CACNA1C window current. Heart Rhythm. 2015 12(1):211-9. doi: 10.1016/j.hrthm.2014.09.051. 25260352 | |||
| Inherited Arrhythmia | LQTS | Novel Timothy syndrome mutation leading to increase in CACNA1C window current. Heart Rhythm. 2015 12(1):211-9. doi: 10.1016/j.hrthm.2014.09.051. 25260352 | |||
| Inherited Arrhythmia | LQTS | Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. J Mol Cell Cardiol. 2015 80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. 25633834 | |||
| Inherited Arrhythmia | LQTS | Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. J Mol Cell Cardiol. 2015 80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. 25633834 | |||
| Other Disease Phenotype | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 18(9):898-905. doi: 10.1038/gim.2015.186. 26795593 | ||||
| p.I1166V | c.3496A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. J Mol Cell Cardiol. 2015 80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. 25633834 | ||