No paralogue variants have been mapped to residue 17 for CACNA1C.
| CACNA1C | MVNENTR--MYIPEENHQ>G<SNYGS------------PR-PAHANMN--- | 31 |
| CACNA1A | MARF-----GD----EM->P<ARYGG------------GGSGAAAGV---- | 23 |
| CACNA1B | MVRF-----GD----EL->G<GRYGG------------PGGGERA------ | 21 |
| CACNA1D | MMMM-----MMMKKMQHQ>R<QQQAD--------H--ANE-ANYARGT--- | 30 |
| CACNA1E | MARF-----GE----AV->V<ARPGS---------------GDGD------ | 18 |
| CACNA1F | MSES-----E----GG-->-<-KDTT------------PE-PSPAN----- | 18 |
| CACNA1G | MDEE-ED--GA------->-<-----GAEESGQP-R-S---------F--- | 19 |
| CACNA1H | MTEG-ARAADE--V-RV->P<--LGAPPPGPAALVGASPESPGAPGRE--- | 39 |
| CACNA1I | MAE------SA------->-<-----SPPSSSAAAPAA------------- | 17 |
| CACNA1S | MEP--------------->-<------------------------------ | 3 |
| SCN10A | ----MEF-P-I------->-<-----GSLETNNFRRFTPESLVEIEKQIAA | 30 |
| SCN11A | -MDDRCY-P-V------->-<-----IFPDERNFRPFTSDSLAAIEKRIAI | 33 |
| SCN1A | ---MEQT-V-L------->-<-----VPPGPDSFNFFTRESLAAIERRIAE | 31 |
| SCN2A | ---MAQS-V-L------->-<-----VPPGPDSFRFFTRESLAAIEQRIAE | 31 |
| SCN3A | ---MAQA-L-L------->-<-----VPPGPESFRLFTRESLAAIEKRAAE | 31 |
| SCN4A | MARPSLC-T-L------->-<-----VPLGPECLRPFTRESLAAIEQRAVE | 34 |
| SCN5A | ----MAN-F-L------->-<-----LPRGTSSFRRFTRESLAAIEKRMAE | 30 |
| SCN7A | --------M-L------->-<-----ASPEPKGLVPFTKESFELIKQHIAK | 27 |
| SCN8A | ---MAAR-L-L------->-<-----APPGPDSFKPFTPESLANIERRIAE | 31 |
| SCN9A | -----MA-M-L------->-<-----PPPGPQSFVHFTKQSLALIEQRIAE | 29 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G17D | c.50G>A | Putative Benign | SIFT: Polyphen: |