No paralogue variants have been mapped to residue 1312 for CACNA1C.
CACNA1C | IVVGSIVDIAITEVNPAE----HTQ----C>S<PSMNAEENSRISITFFRLFRV---MRLVKL | 1339 |
CACNA1A | TVLGSITDILVTEFGNN------------->-<---------FINLSFLRLFRA---ARLIKL | 1671 |
CACNA1B | TVLGSITDILVTEIAET------------->-<-------NNFINLSFLRLFRA---ARLIKL | 1579 |
CACNA1D | IVIGSIIDVALSEADPTE----SENVPVPT>A<TPGNSEESNRISITFFRLFRV---MRLVKL | 1349 |
CACNA1E | TVIGSITEIILTDSKLV------------->-<------NTSGFNMSFLKLFRA---ARLIKL | 1586 |
CACNA1F | IVVGSIVDIAVTEVNNGG----HLG----E>-<---SSEDSSRISITFFRLFRV---MRLVKL | 1306 |
CACNA1G | IVLLSIMGITLEEIEVN------------->-<------ASLPINPTIIRIMRVLRIARVLKL | 1722 |
CACNA1H | IVLLSLMGITLEEIEMS------------->-<------AALPINPTIIRIMRVLRIARVLKL | 1728 |
CACNA1I | IVLLSVMGITLEEIEIN------------->-<------AALPINPTIIRIMRVLRIARVLKL | 1598 |
CACNA1S | IVIGSIIDVILSEIDTFLASSGGLYCLGGG>C<GNVDPDESARISSAFFRLFRV---MRLIKL | 1246 |
SCN10A | VVVLSIASLIFSAILKS------------->-<------LQSYFSPTLFRVIRLARIGRILRL | 1586 |
SCN11A | VVLLSIVSTMISTLENQ------------->-<------EHIPFPPTLFRIVRLARIGRILRL | 1476 |
SCN1A | VVILSIVGMFLAELIE-------------->-<-------KYFVSPTLFRVIRLARIGRILRL | 1649 |
SCN2A | VVILSIVGMFLAELIE-------------->-<-------KYFVSPTLFRVIRLARIGRILRL | 1639 |
SCN3A | VVILSIVGMFLAEMIE-------------->-<-------KYFVSPTLFRVIRLARIGRILRL | 1634 |
SCN4A | VVILSIVGLALSDLIQ-------------->-<-------KYFVSPTLFRVIRLARIGRVLRL | 1461 |
SCN5A | VVILSIVGTVLSDIIQ-------------->-<-------KYFFSPTLFRVIRLARIGRILRL | 1636 |
SCN7A | VVIFSITGLCLPMTVG-------------->-<-------SYLVPPSLVQLILLSRIIHMLRL | 1359 |
SCN8A | VVILSIVGMFLADIIE-------------->-<-------KYFVSPTLFRVIRLARIGRILRL | 1630 |
SCN9A | VVIISIVGMFLADLIE-------------->-<-------TYFVSPTLFRVIRLARIGRILRL | 1612 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1312P | c.3934T>C | Putative Benign | SIFT: Polyphen: |