No paralogue variants have been mapped to residue 1685 for CACNA1C.
CACNA1C | -------ISG----DLTAEEE-LD-K-AMK>E<AVSA-------------------------- | 1689 |
CACNA1A | -------QNALPS-TQLDPGGALM---AHE>S<GLKESPSWVTQRAQEMFQKTGTWSPEQGPP | 2053 |
CACNA1B | ARVFLR-QKS--S-TSLSNGGAIQ---NQE>S<GIKESVSWGTQRTQDAPHEA-RPPLERGHS | 1961 |
CACNA1D | -------ISC----DLQDDEP-EE-----T>K<R----------------------------- | 1692 |
CACNA1E | -------AKALPY-LQQDPVSGL------->S<GRSGYPSMSPLSPQDIFQLACMDPADDGQF | 1960 |
CACNA1F | -------LTC----DTEEEEE-EG-----Q>E<GVEE-------------------------- | 1652 |
CACNA1G | -----DDMHTLLLSALESN-MQPH---PTE>L<PGPDLLTVRKSGVSRTHSLPNDSYMCRHGS | 2058 |
CACNA1H | LSPRGTARSPSLSRLLCRQ-EAVH---TDS>L<EGKIDSPRDTLDPAEPGEKTPVRPVTQGGS | 2054 |
CACNA1I | --PEPMRVGDLGECFFPLS-STAVSPDPEN>F<LCEMEEIPFNPVRSWLKHDSSQAPPSPFSP | 1951 |
CACNA1S | -------VSG----DLAAEEE-LE-----R>A<MVEA-------------------------- | 1591 |
SCN10A | ------------------------------>-<--NE-------------------------- | 1901 |
SCN11A | ------------------------------>-<--NG-------------------------- | 1765 |
SCN1A | ------------------------------>-<--NE-------------------------- | 1966 |
SCN2A | ------------------------------>-<--NE-------------------------- | 1956 |
SCN3A | ------------------------------>-<--NG-------------------------- | 1951 |
SCN4A | ---------------------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.E1685K | c.5053G>A | Putative Benign | SIFT: Polyphen: |