No paralogue variants have been mapped to residue 51 for SCN5A.
| SCN5A | EKRMAEK-QARGSTTLQESRE-GLPEE--E>A<PRPQLDLQASKKLPDLYGNPPQELIGEPLE | 81 |
| SCN1A | ERRIAEE-KAKNPKPD----K-KDDDE--N>G<PKPNSDLEAGKNLPFIYGDIPPEMVSEPLE | 78 |
| SCN2A | EQRIAEE-KAKRPKQE----RKDEDDE--N>G<PKPNSDLEAGKSLPFIYGDIPPEMVSVPLE | 79 |
| SCN3A | EKRAAEE-KAKKPKKE----Q-DNDDE--N>K<PKPNSDLEAGKNLPFIYGDIPPEMVSEPLE | 78 |
| SCN4A | EQRAVEE-EARLQRNK----Q-MEIEE--P>E<RKPRSDLEAGKNLPMIYGDPPPEVIGIPLE | 81 |
| SCN7A | KQHIAKT--------H----N-EDHEE--E>D<LKPTPDLEVGKKLPFIYGNLSQGMVSEPLE | 67 |
| SCN8A | ERRIAES-KLKKPPKADGSHR-EDDED--S>K<PKPNSDLEAGKSLPFIYGDIPQGLVAVPLE | 82 |
| SCN9A | EQRIAER-KSKEPKEE----K-KDDDE--E>A<PKPSSDLEAGKQLPFIYGDIPPGMVSEPLE | 76 |
| SCN10A | EKQIAAKQGT-KKARE-KHRE-QKDQE--E>K<PRPQLDLKACNQLPKFYGELPAELIGEPLE | 80 |
| SCN11A | EKRIAIQ-KEKKKSK-----D-QTGEV--P>Q<PRPQLDLKASRKLPKLYGDIPRELIGKPLE | 79 |
| CACNA1A | GV-------------VVGSG-GGRGAG--G>S<RQGGQ--------PGA-----------QRM | 47 |
| CACNA1B | -----------------RGG-GAGGAG--G>P<GPGGLQ-------PGQ-----------RVL | 44 |
| CACNA1C | NMN--------A-NAAAGLA----PEH--I>P<TPGAALSWQAAIDAARQAKLMGSAGNATIS | 74 |
| CACNA1D | RGT--------R-LPLSGEG----PTSQPN>S<SKQTVLSWQAAIDAARQAKAAQTMSTSAPP | 75 |
| CACNA1E | ----------------SD-Q-SRNRQG--T>P<VPA----------SGQ-----------AAA | 38 |
| CACNA1F | N--------------GAGPG----PEWGLC>P<GP----P-------AV--------EGESSG | 41 |
| CACNA1G | --F--------M--RLND------LSG--A>G<GRP-----------G-----------PGSA | 37 |
| CACNA1H | GRE--------A--ERGS------ELG--V>S<PSE-----------S-----------P-AA | 56 |
| CACNA1I | -----------E--PGVTTE----QPG--P>-<-RS--P-------PS-----------SPPG | 37 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A51V | c.152C>T | Putative Benign | SIFT: Polyphen: |