No paralogue variants have been mapped to residue 13 for CACNA1C.
CACNA1C | MVNENTR--MYIPE>E<NHQGSNYGS------------PR-PAHANM | 30 |
CACNA1A | MARF-----GD--->-<EM-PARYGG------------GGSGAAAGV | 23 |
CACNA1B | MVRF-----GD--->-<EL-GGRYGG------------PGGGERA-- | 21 |
CACNA1D | MMMM-----MMMKK>M<QHQRQQQAD--------H--ANE-ANYARG | 29 |
CACNA1E | MARF-----GE--->-<AV-VARPGS---------------GDGD-- | 18 |
CACNA1F | MSES-----E---->G<G----KDTT------------PE-PSPAN- | 18 |
CACNA1G | MDEE-ED--GA--->-<---------GAEESGQP-R-S--------- | 18 |
CACNA1H | MTEG-ARAADE--V>-<RV-P--LGAPPPGPAALVGASPESPGAPGR | 38 |
CACNA1I | MAE------SA--->-<---------SPPSSSAAAPAA--------- | 17 |
CACNA1S | MEP----------->-<------------------------------ | 3 |
SCN10A | ----MEF-P-I--->-<---------GSLETNNFRRFTPESLVEIEK | 26 |
SCN11A | -MDDRCY-P-V--->-<---------IFPDERNFRPFTSDSLAAIEK | 29 |
SCN1A | ---MEQT-V-L--->-<---------VPPGPDSFNFFTRESLAAIER | 27 |
SCN2A | ---MAQS-V-L--->-<---------VPPGPDSFRFFTRESLAAIEQ | 27 |
SCN3A | ---MAQA-L-L--->-<---------VPPGPESFRLFTRESLAAIEK | 27 |
SCN4A | MARPSLC-T-L--->-<---------VPLGPECLRPFTRESLAAIEQ | 30 |
SCN5A | ----MAN-F-L--->-<---------LPRGTSSFRRFTRESLAAIEK | 26 |
SCN7A | --------M-L--->-<---------ASPEPKGLVPFTKESFELIKQ | 23 |
SCN8A | ---MAAR-L-L--->-<---------APPGPDSFKPFTPESLANIER | 27 |
SCN9A | -----MA-M-L--->-<---------PPPGPQSFVHFTKQSLALIEQ | 25 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E13K | c.37G>A | Putative Benign | SIFT: Polyphen: |