No paralogue variants have been mapped to residue 28 for CACNA1C.
| CACNA1C | PEENHQGSNYGS------------PR-PAH>A<NMN--------A-NAAAGLA----PEH--I | 43 |
| CACNA1A | ---EM-PARYGG------------GGSGAA>A<GV-------------VVGSG-GGRGAG--G | 35 |
| CACNA1B | ---EL-GGRYGG------------PGGGER>A<-----------------RGG-GAGGAG--G | 31 |
| CACNA1D | KKMQHQRQQQAD--------H--ANE-ANY>A<RGT--------R-LPLSGEG----PTSQPN | 44 |
| CACNA1E | ---AV-VARPGS---------------GDG>D<----------------SD-Q-SRNRQG--T | 28 |
| CACNA1F | --GG----KDTT------------PE-PSP>A<N--------------GAGPG----PEWGLC | 29 |
| CACNA1G | ------------GAEESGQP-R-S------>-<--F--------M--RLND------LSG--A | 28 |
| CACNA1H | -V-RV-P--LGAPPPGPAALVGASPESPGA>P<GRE--------A--ERGS------ELG--V | 48 |
| CACNA1I | ------------SPPSSSAAAPAA------>-<-----------E--PGVTTE----QPG--P | 28 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| SCN10A | ------------GSLETNNFRRFTPESLVE>I<EKQIAAKQGT-KKARE-KHRE-QKDQE--E | 49 |
| SCN11A | ------------IFPDERNFRPFTSDSLAA>I<EKRIAIQ-KEKKKSK-----D-QTGEV--P | 48 |
| SCN1A | ------------VPPGPDSFNFFTRESLAA>I<ERRIAEE-KAKNPKPD----K-KDDDE--N | 47 |
| SCN2A | ------------VPPGPDSFRFFTRESLAA>I<EQRIAEE-KAKRPKQE----RKDEDDE--N | 48 |
| SCN3A | ------------VPPGPESFRLFTRESLAA>I<EKRAAEE-KAKKPKKE----Q-DNDDE--N | 47 |
| SCN4A | ------------VPLGPECLRPFTRESLAA>I<EQRAVEE-EARLQRNK----Q-MEIEE--P | 50 |
| SCN5A | ------------LPRGTSSFRRFTRESLAA>I<EKRMAEK-QARGSTTLQESRE-GLPEE--E | 50 |
| SCN7A | ------------ASPEPKGLVPFTKESFEL>I<KQHIAKT--------H----N-EDHEE--E | 36 |
| SCN8A | ------------APPGPDSFKPFTPESLAN>I<ERRIAES-KLKKPPKADGSHR-EDDED--S | 51 |
| SCN9A | ------------PPPGPQSFVHFTKQSLAL>I<EQRIAER-KSKEPKEE----K-KDDDE--E | 45 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A28T | c.82G>A | Inherited Arrhythmia | rs373687005 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. J Mol Cell Cardiol. 2015 80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. 25633834 | ||