No paralogue variants have been mapped to residue 22 for CACNA1C.
CACNA1C | MVNENTR--MYIPEENHQGSNYG>S<------------PR-PAHANMN-------- | 31 |
CACNA1A | MARF-----GD----EM-PARYG>G<------------GGSGAAAGV--------- | 23 |
CACNA1B | MVRF-----GD----EL-GGRYG>G<------------PGGGERA----------- | 21 |
CACNA1D | MMMM-----MMMKKMQHQRQQQA>D<--------H--ANE-ANYARGT-------- | 30 |
CACNA1E | MARF-----GE----AV-VARPG>S<---------------GDGD----------- | 18 |
CACNA1F | MSES-----E----GG----KDT>T<------------PE-PSPAN---------- | 18 |
CACNA1G | MDEE-ED--GA------------>-<GAEESGQP-R-S---------F-------- | 19 |
CACNA1H | MTEG-ARAADE--V-RV-P--LG>A<PPPGPAALVGASPESPGAPGRE-------- | 39 |
CACNA1I | MAE------SA------------>-<SPPSSSAAAPAA------------------ | 17 |
CACNA1S | MEP-------------------->-<------------------------------ | 3 |
SCN10A | ----MEF-P-I------------>-<GSLETNNFRRFTPESLVEIEKQIAAKQGT- | 34 |
SCN11A | -MDDRCY-P-V------------>-<IFPDERNFRPFTSDSLAAIEKRIAIQ-KEK | 37 |
SCN1A | ---MEQT-V-L------------>-<VPPGPDSFNFFTRESLAAIERRIAEE-KAK | 35 |
SCN2A | ---MAQS-V-L------------>-<VPPGPDSFRFFTRESLAAIEQRIAEE-KAK | 35 |
SCN3A | ---MAQA-L-L------------>-<VPPGPESFRLFTRESLAAIEKRAAEE-KAK | 35 |
SCN4A | MARPSLC-T-L------------>-<VPLGPECLRPFTRESLAAIEQRAVEE-EAR | 38 |
SCN5A | ----MAN-F-L------------>-<LPRGTSSFRRFTRESLAAIEKRMAEK-QAR | 34 |
SCN7A | --------M-L------------>-<ASPEPKGLVPFTKESFELIKQHIAKT---- | 28 |
SCN8A | ---MAAR-L-L------------>-<APPGPDSFKPFTPESLANIERRIAES-KLK | 35 |
SCN9A | -----MA-M-L------------>-<PPPGPQSFVHFTKQSLALIEQRIAER-KSK | 33 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S22I | c.65G>T | Putative Benign | SIFT: Polyphen: |