No paralogue variants have been mapped to residue 1317 for CACNA1C.
CACNA1C | IVDIAITEVNPAE----HTQ----CSPSMN>A<EENSRISITFFRLFRV---MRLVKLLSRGE | 1344 |
CACNA1A | ITDILVTEFGNN------------------>-<----FINLSFLRLFRA---ARLIKLLRQGY | 1676 |
CACNA1B | ITDILVTEIAET------------------>-<--NNFINLSFLRLFRA---ARLIKLLRQGY | 1584 |
CACNA1D | IIDVALSEADPTE----SENVPVPTATPGN>S<EESNRISITFFRLFRV---MRLVKLLSRGE | 1354 |
CACNA1E | ITEIILTDSKLV------------------>-<-NTSGFNMSFLKLFRA---ARLIKLLRQGY | 1591 |
CACNA1F | IVDIAVTEVNNGG----HLG----E----S>S<EDSSRISITFFRLFRV---MRLVKLLSKGE | 1311 |
CACNA1G | IMGITLEEIEVN------------------>-<-ASLPINPTIIRIMRVLRIARVLKLLKMAV | 1727 |
CACNA1H | LMGITLEEIEMS------------------>-<-AALPINPTIIRIMRVLRIARVLKLLKMAT | 1733 |
CACNA1I | VMGITLEEIEIN------------------>-<-AALPINPTIIRIMRVLRIARVLKLLKMAT | 1603 |
CACNA1S | IIDVILSEIDTFLASSGGLYCLGGGCGNVD>P<DESARISSAFFRLFRV---MRLIKLLSRAE | 1251 |
SCN10A | IASLIFSAILKS------------------>-<-LQSYFSPTLFRVIRLARIGRILRLIRAAK | 1591 |
SCN11A | IVSTMISTLENQ------------------>-<-EHIPFPPTLFRIVRLARIGRILRLVRAAR | 1481 |
SCN1A | IVGMFLAELIE------------------->-<--KYFVSPTLFRVIRLARIGRILRLIKGAK | 1654 |
SCN2A | IVGMFLAELIE------------------->-<--KYFVSPTLFRVIRLARIGRILRLIKGAK | 1644 |
SCN3A | IVGMFLAEMIE------------------->-<--KYFVSPTLFRVIRLARIGRILRLIKGAK | 1639 |
SCN4A | IVGLALSDLIQ------------------->-<--KYFVSPTLFRVIRLARIGRVLRLIRGAK | 1466 |
SCN5A | IVGTVLSDIIQ------------------->-<--KYFFSPTLFRVIRLARIGRILRLIRGAK | 1641 |
SCN7A | ITGLCLPMTVG------------------->-<--SYLVPPSLVQLILLSRIIHMLRLGKGPK | 1364 |
SCN8A | IVGMFLADIIE------------------->-<--KYFVSPTLFRVIRLARIGRILRLIKGAK | 1635 |
SCN9A | IVGMFLADLIE------------------->-<--TYFVSPTLFRVIRLARIGRILRLVKGAK | 1617 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1317T | c.3949G>A | Putative Benign | SIFT: Polyphen: |