No paralogue variants have been mapped to residue 2075 for CACNA1C.
CACNA1C | -------PKFIEVTT-QELADACDMTIEEM>E<SAADNILSGGAPQSPNGALLPFVNCRDAG- | 2104 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | -------SDPYLGQR-LDSEASVHALPEDT>L<TFEEAVATNSGRSSRTSYVSSLTSQSHPL- | 2308 |
CACNA1D | -------PKFVSATK-HEIADACDLTIDEM>E<SAASTLLNGNVRPRANGDVGPLSHRQDYE- | 2149 |
CACNA1E | -------SEPYLALH-EDSHAS-DCGEEET>L<TFEAAVATSLGRSNTIGSAPPLRHSW---- | 2276 |
CACNA1F | -------PRFVALAK-QEIADACRLTLDEM>D<NAASDLLAQGTSS----------------- | 1950 |
CACNA1G | -------PPSPGICLRRRAPSSDSKDPLAS>G<PPDSMAASPSPKKDVLSLSGLSSDPADLD- | 2376 |
CACNA1H | KGERWGQASCRAEHLTVPSFAFEPLDLGVP>S<GDPFLDGSHSVTPESRASSSGAIVPLEPPE | 2307 |
CACNA1I | -------PPAPGLTPARKFSSTSSLAAPGR>P<HAAALAHGLARSPSWAADRSKDPPGRAPLP | 2195 |
CACNA1S | -------ANFIMATG-QALADACQMEPEEV>E<IMATELLKGREAPEGMASSLGCLNL----- | 1851 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2075A | c.6224A>C | Putative Benign | SIFT: Polyphen: |