No paralogue variants have been mapped to residue 1682 for CACNA1C.
CACNA1C | RRA-------ISG----DLTAEEE-LD-K->A<MKEAVSA----------------------- | 1689 |
CACNA1A | P-G-------QNALPS-TQLDPGGALM--->A<HESGLKESPSWVTQRAQEMFQKTGTWSPEQ | 2050 |
CACNA1B | LRGARVFLR-QKS--S-TSLSNGGAIQ--->N<QESGIKESVSWGTQRTQDAPHEA-RPPLER | 1958 |
CACNA1D | RRA-------ISC----DLQDDEP-EE--->-<-TKR-------------------------- | 1692 |
CACNA1E | A-N-------AKALPY-LQQDPVSGL---->-<--SGRSGYPSMSPLSPQDIFQLACMDPADD | 1957 |
CACNA1F | RQA-------LTC----DTEEEEE-EG--->-<-QEGVEE----------------------- | 1652 |
CACNA1G | --------DDMHTLLLSALESN-MQPH--->P<TELPGPDLLTVRKSGVSRTHSLPNDSYMCR | 2055 |
CACNA1H | LHALSPRGTARSPSLSRLLCRQ-EAVH--->T<DSLEGKIDSPRDTLDPAEPGEKTPVRPVTQ | 2051 |
CACNA1I | -----PEPMRVGDLGECFFPLS-STAVSPD>P<ENFLCEMEEIPFNPVRSWLKHDSSQAPPSP | 1948 |
CACNA1S | CRT-------VSG----DLAAEEE-LE--->-<-RAMVEA----------------------- | 1591 |
SCN10A | ------------------------------>-<-----NE----------------------- | 1901 |
SCN11A | ------------------------------>-<-----NG----------------------- | 1765 |
SCN1A | ------------------------------>-<-----NE----------------------- | 1966 |
SCN2A | ------------------------------>-<-----NE----------------------- | 1956 |
SCN3A | ------------------------------>-<-----NG----------------------- | 1951 |
SCN4A | KMY---------------------GHE--->-<-----NG----------------------- | 1785 |
SCN5A | ------------------------------>-<-----SE----------------------- | 1954 |
SCN7A | ------------------------------>-<-----KE----------------------- | 1674 |
SCN8A | ------------------------------>-<-----NG----------------------- | 1928 |
SCN9A | ------------------------------>-<-----NE----------------------- | 1928 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1682T | c.5044G>A | Putative Benign | SIFT: Polyphen: |