No paralogue variants have been mapped to residue 1678 for CACNA1C.
CACNA1C | DIGPE-IRRA-------ISG----DLTAEE>E<-LD-K-AMKEAVSA---------------- | 1689 |
CACNA1A | ---EG-GP-G-------QNALPS-TQLDPG>G<ALM---AHESGLKESPSWVTQRAQEMFQKT | 2043 |
CACNA1B | QT-QPAVLRGARVFLR-QKS--S-TSLSNG>G<AIQ---NQESGIKESVSWGTQRTQDAPHEA | 1952 |
CACNA1D | DIGPE-IRRA-------ISC----DLQDDE>P<-EE-----TKR------------------- | 1692 |
CACNA1E | ---EI-IA-N-------AKALPY-LQQDPV>S<GL-------SGRSGYPSMSPLSPQDIFQLA | 1950 |
CACNA1F | DLGPE-MRQA-------LTC----DTEEEE>E<-EG-----QEGVEE---------------- | 1652 |
CACNA1G | ---DSLP--------DDMHTLLLSALESN->M<QPH---PTELPGPDLLTVRKSGVSRTHSLP | 2048 |
CACNA1H | ---SGEPLHALSPRGTARSPSLSRLLCRQ->E<AVH---TDSLEGKIDSPRDTLDPAEPGEKT | 2044 |
CACNA1I | ---ELDP-----PEPMRVGDLGECFFPLS->S<TAVSPDPENFLCEMEEIPFNPVRSWLKHDS | 1941 |
CACNA1S | EAAPE-ICRT-------VSG----DLAAEE>E<-LE-----RAMVEA---------------- | 1591 |
SCN10A | VAFTA------------------------->-<------------NE---------------- | 1901 |
SCN11A | ----E------------------------->-<------------NG---------------- | 1765 |
SCN1A | IIDRI------------------------->-<------------NE---------------- | 1966 |
SCN2A | LIDKL------------------------->-<------------NE---------------- | 1956 |
SCN3A | IIDKL------------------------->-<------------NG---------------- | 1951 |
SCN4A | LANTM-SKMY-------------------->-<GHE---------NG---------------- | 1785 |
SCN5A | IAYVM------------------------->-<------------SE---------------- | 1954 |
SCN7A | YFDKA------------------------->-<------------KE---------------- | 1674 |
SCN8A | SNKLE------------------------->-<------------NG---------------- | 1928 |
SCN9A | AFDNV------------------------->-<------------NE---------------- | 1928 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Glu1678Gly | c.5033A>G | Unknown | SIFT: Polyphen: |