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 |