No paralogue variants have been mapped to residue 48 for CACNA1C.
| CACNA1C | -------A-NAAAGLA----PEH--IPTPG>A<ALSWQAAIDAARQAKLMGSAGNATISTVSS | 78 |
| CACNA1A | -----------VVGSG-GGRGAG--GSRQG>G<Q--------PGA-----------QRMYKQS | 51 |
| CACNA1B | -------------RGG-GAGGAG--GPGPG>G<LQ-------PGQ-----------RVLYKQS | 48 |
| CACNA1D | -------R-LPLSGEG----PTSQPNSSKQ>T<VLSWQAAIDAARQAKAAQTMSTSAPPPVGS | 79 |
| CACNA1E | ------------SD-Q-SRNRQG--TPVPA>-<---------SGQ-----------AAAYKQT | 42 |
| CACNA1F | -----------GAGPG----PEWGLCPGP->-<--P-------AV--------EGESSGASGL | 45 |
| CACNA1G | -------M--RLND------LSG--AGGRP>-<----------G-----------PGSA---- | 37 |
| CACNA1H | -------A--ERGS------ELG--VSPSE>-<----------S-----------P-AA---- | 56 |
| CACNA1I | -------E--PGVTTE----QPG--P--RS>-<-P-------PS-----------SPPG---- | 37 |
| CACNA1S | ------------------------------>-<-----------------------------S | 4 |
| SCN10A | AAKQGT-KKARE-KHRE-QKDQE--EKPRP>Q<LDLKACNQLPKFYGELPAELIGEPLEDLDP | 84 |
| SCN11A | AIQ-KEKKKSK-----D-QTGEV--PQPRP>Q<LDLKASRKLPKLYGDIPRELIGKPLEDLDP | 83 |
| SCN1A | AEE-KAKNPKPD----K-KDDDE--NGPKP>N<SDLEAGKNLPFIYGDIPPEMVSEPLEDLDP | 82 |
| SCN2A | AEE-KAKRPKQE----RKDEDDE--NGPKP>N<SDLEAGKSLPFIYGDIPPEMVSVPLEDLDP | 83 |
| SCN3A | AEE-KAKKPKKE----Q-DNDDE--NKPKP>N<SDLEAGKNLPFIYGDIPPEMVSEPLEDLDP | 82 |
| SCN4A | VEE-EARLQRNK----Q-MEIEE--PERKP>R<SDLEAGKNLPMIYGDPPPEVIGIPLEDLDP | 85 |
| SCN5A | AEK-QARGSTTLQESRE-GLPEE--EAPRP>Q<LDLQASKKLPDLYGNPPQELIGEPLEDLDP | 85 |
| SCN7A | AKT--------H----N-EDHEE--EDLKP>T<PDLEVGKKLPFIYGNLSQGMVSEPLEDVDP | 71 |
| SCN8A | AES-KLKKPPKADGSHR-EDDED--SKPKP>N<SDLEAGKSLPFIYGDIPQGLVAVPLEDFDP | 86 |
| SCN9A | AER-KSKEPKEE----K-KDDDE--EAPKP>S<SDLEAGKQLPFIYGDIPPGMVSEPLEDLDP | 80 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A48D | c.143C>A | Putative Benign | rs61738859 | SIFT: tolerated Polyphen: possibly damaging |