No paralogue variants have been mapped to residue 383 for CACNA1C.
| CACNA1C | MLTVFQCITMEGWTDVLYWVNDAVGRDWPW>I<YFVTLIIIGSFFVLNLVLGVLSGEFSKERE | 413 |
| CACNA1A | VLTVFQCITMEGWTDLLYNSNDASGNTWNW>L<YFIPLIIIGSFFMLNLVLGVLSGEFAKERE | 368 |
| CACNA1B | ILTVFQCITMEGWTDILYNTNDAAGNTWNW>L<YFIPLIIIGSFFMLNLVLGVLSGEFAKERE | 364 |
| CACNA1D | MLTVFQCITMEGWTDVLYWVNDAIGWEWPW>V<YFVSLIILGSFFVLNLVLGVLSGEFSKERE | 414 |
| CACNA1E | VLTVFQCITMEGWTTVLYNTNDALGATWNW>L<YFIPLIIIGSFFVLNLVLGVLSGEFAKERE | 359 |
| CACNA1F | MLTVFQCVTMEGWTDVLYWMQDAMGYELPW>V<YFVSLVIFGSFFVLNLVLGVLSGEFSKERE | 380 |
| CACNA1G | WIAIFQVITLEGWVDIMYFVMDAHSF-YNF>I<YFILLIIVGSFFMINLCLVVIATQFSETKQ | 403 |
| CACNA1H | WIAIFQVITLEGWVDIMYYVMDAHSF-YNF>I<YFILLIIVGSFFMINLCLVVIATQFSETKQ | 427 |
| CACNA1I | WIVIFQVITLEGWVEIMYYVMDAHSF-YNF>I<YFILLIIVGSFFMINLCLVVIATQFSETKQ | 406 |
| CACNA1S | MLTVYQCITMEGWTDVLYWVNDAIGNEWPW>I<YFVTLILLGSFFILNLVLGVLSGEFTKERE | 342 |
| SCN10A | FLSLFRLMTQDSWERLYQQTLRTSGKIY-M>I<FFVLVIFLGSFYLVNLILAVVTMAYEEQNQ | 405 |
| SCN11A | FLAMFRLMTQDSWEKLYQQTLRTTGLYS-V>F<FFIVVIFLGSFYLINLTLAVVTMAYEEQNK | 408 |
| SCN1A | FLSLFRLMTQDFWENLYQLTLRAAGKTY-M>I<FFVLVIFLGSFYLINLILAVVAMAYEEQNQ | 431 |
| SCN2A | FLSLFRLMTQDFWENLYQLTLRAAGKTY-M>I<FFVLVIFLGSFYLINLILAVVAMAYEEQNQ | 433 |
| SCN3A | FLSLFRLMTQDYWENLYQLTLRAAGKTY-M>I<FFVLVIFLGSFYLVNLILAVVAMAYEEQNQ | 432 |
| SCN4A | FLALFRLMTQDYWENLFQLTLRAAGKTY-M>I<FFVVIIFLGSFYLINLILAVVAMAYAEQNE | 455 |
| SCN5A | FLALFRLMTQDCWERLYQQTLRSAGKIY-M>I<FFMLVIFLGSFYLVNLILAVVAMAYEEQNQ | 421 |
| SCN7A | LFALFRLMAQDYPEVLYHQILYASGKVY-M>I<FFVVVSFLFSFYMASLFLGILAMAYEEEKQ | 402 |
| SCN8A | FLALFRLMTQDYWENLYQLTLRAAGKTY-M>I<FFVLVIFVGSFYLVNLILAVVAMAYEEQNQ | 419 |
| SCN9A | FLALFRLMTQDYWENLYQQTLRAAGKTY-M>I<FFVVVIFLGSFYLINLILAVVAMAYEEQNQ | 410 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I383M | c.1149C>G | Putative Benign | rs1051350 | SIFT: tolerated Polyphen: benign | |
| p.I383V | c.1147A>G | Putative Benign | rs1051348 | SIFT: tolerated Polyphen: benign |