No paralogue variants have been mapped to residue 1675 for CACNA1C.
CACNA1C | -H-DIGPE-IRRA-------ISG----DLT>A<EEE-LD-K-AMKEAVSA------------- | 1689 |
CACNA1A | ------EG-GP-G-------QNALPS-TQL>D<PGGALM---AHESGLKESPSWVTQRAQEMF | 2040 |
CACNA1B | LE-QT-QPAVLRGARVFLR-QKS--S-TSL>S<NGGAIQ---NQESGIKESVSWGTQRTQDAP | 1949 |
CACNA1D | -H-DIGPE-IRRA-------ISC----DLQ>D<DEP-EE-----TKR---------------- | 1692 |
CACNA1E | ------EI-IA-N-------AKALPY-LQQ>D<PVSGL-------SGRSGYPSMSPLSPQDIF | 1947 |
CACNA1F | -Q-DLGPE-MRQA-------LTC----DTE>E<EEE-EG-----QEGVEE------------- | 1652 |
CACNA1G | ------DSLP--------DDMHTLLLSALE>S<N-MQPH---PTELPGPDLLTVRKSGVSRTH | 2045 |
CACNA1H | ------SGEPLHALSPRGTARSPSLSRLLC>R<Q-EAVH---TDSLEGKIDSPRDTLDPAEPG | 2041 |
CACNA1I | ------ELDP-----PEPMRVGDLGECFFP>L<S-STAVSPDPENFLCEMEEIPFNPVRSWLK | 1938 |
CACNA1S | -EEEAAPE-ICRT-------VSG----DLA>A<EEE-LE-----RAMVEA------------- | 1591 |
SCN10A | GF-VAFTA---------------------->-<---------------NE------------- | 1901 |
SCN11A | DL-----E---------------------->-<---------------NG------------- | 1765 |
SCN1A | DM-IIDRI---------------------->-<---------------NE------------- | 1966 |
SCN2A | DT-LIDKL---------------------->-<---------------NE------------- | 1956 |
SCN3A | DM-IIDKL---------------------->-<---------------NG------------- | 1951 |
SCN4A | GL-LANTM-SKMY----------------->-<---GHE---------NG------------- | 1785 |
SCN5A | GL-IAYVM---------------------->-<---------------SE------------- | 1954 |
SCN7A | GA-YFDKA---------------------->-<---------------KE------------- | 1674 |
SCN8A | TT-SNKLE---------------------->-<---------------NG------------- | 1928 |
SCN9A | DM-AFDNV---------------------->-<---------------NE------------- | 1928 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1675T | c.5023G>A | Putative Benign | SIFT: Polyphen: |