No paralogue variants have been mapped to residue 378 for CACNA1C.
CACNA1C | NFAFAMLTVFQCITMEGWTDVLYWVNDAVG>R<DWPWIYFVTLIIIGSFFVLNLVLGVLSGEF | 408 |
CACNA1A | NILFAVLTVFQCITMEGWTDLLYNSNDASG>N<TWNWLYFIPLIIIGSFFMLNLVLGVLSGEF | 363 |
CACNA1B | NILFAILTVFQCITMEGWTDILYNTNDAAG>N<TWNWLYFIPLIIIGSFFMLNLVLGVLSGEF | 359 |
CACNA1D | NFAFAMLTVFQCITMEGWTDVLYWVNDAIG>W<EWPWVYFVSLIILGSFFVLNLVLGVLSGEF | 409 |
CACNA1E | NILFAVLTVFQCITMEGWTTVLYNTNDALG>A<TWNWLYFIPLIIIGSFFVLNLVLGVLSGEF | 354 |
CACNA1F | NFFFAMLTVFQCVTMEGWTDVLYWMQDAMG>Y<ELPWVYFVSLVIFGSFFVLNLVLGVLSGEF | 375 |
CACNA1G | NIGYAWIAIFQVITLEGWVDIMYFVMDAHS>F<-YNFIYFILLIIVGSFFMINLCLVVIATQF | 398 |
CACNA1H | NIGYAWIAIFQVITLEGWVDIMYYVMDAHS>F<-YNFIYFILLIIVGSFFMINLCLVVIATQF | 422 |
CACNA1I | NIGYAWIVIFQVITLEGWVEIMYYVMDAHS>F<-YNFIYFILLIIVGSFFMINLCLVVIATQF | 401 |
CACNA1S | NFGFSMLTVYQCITMEGWTDVLYWVNDAIG>N<EWPWIYFVTLILLGSFFILNLVLGVLSGEF | 337 |
SCN10A | SFAWAFLSLFRLMTQDSWERLYQQTLRTSG>K<IY-MIFFVLVIFLGSFYLVNLILAVVTMAY | 400 |
SCN11A | NFGWSFLAMFRLMTQDSWEKLYQQTLRTTG>L<YS-VFFFIVVIFLGSFYLINLTLAVVTMAY | 403 |
SCN1A | TFSWAFLSLFRLMTQDFWENLYQLTLRAAG>K<TY-MIFFVLVIFLGSFYLINLILAVVAMAY | 426 |
SCN2A | TFSWAFLSLFRLMTQDFWENLYQLTLRAAG>K<TY-MIFFVLVIFLGSFYLINLILAVVAMAY | 428 |
SCN3A | TFSWAFLSLFRLMTQDYWENLYQLTLRAAG>K<TY-MIFFVLVIFLGSFYLVNLILAVVAMAY | 427 |
SCN4A | TFSWAFLALFRLMTQDYWENLFQLTLRAAG>K<TY-MIFFVVIIFLGSFYLINLILAVVAMAY | 450 |
SCN5A | SFAWAFLALFRLMTQDCWERLYQQTLRSAG>K<IY-MIFFMLVIFLGSFYLVNLILAVVAMAY | 416 |
SCN7A | SFGWALFALFRLMAQDYPEVLYHQILYASG>K<VY-MIFFVVVSFLFSFYMASLFLGILAMAY | 397 |
SCN8A | TFSWAFLALFRLMTQDYWENLYQLTLRAAG>K<TY-MIFFVLVIFVGSFYLVNLILAVVAMAY | 414 |
SCN9A | TFSWAFLALFRLMTQDYWENLYQQTLRAAG>K<TY-MIFFVVVIFLGSFYLINLILAVVAMAY | 405 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R378M | c.1133G>T | Putative Benign | rs1131657 | SIFT: tolerated Polyphen: benign |