No paralogue variants have been mapped to residue 53 for SCN5A.
| SCN5A | RMAEK-QARGSTTLQESRE-GLPEE--EAP>R<PQLDLQASKKLPDLYGNPPQELIGEPLEDL | 83 |
| SCN1A | RIAEE-KAKNPKPD----K-KDDDE--NGP>K<PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL | 80 |
| SCN2A | RIAEE-KAKRPKQE----RKDEDDE--NGP>K<PNSDLEAGKSLPFIYGDIPPEMVSVPLEDL | 81 |
| SCN3A | RAAEE-KAKKPKKE----Q-DNDDE--NKP>K<PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL | 80 |
| SCN4A | RAVEE-EARLQRNK----Q-MEIEE--PER>K<PRSDLEAGKNLPMIYGDPPPEVIGIPLEDL | 83 |
| SCN7A | HIAKT--------H----N-EDHEE--EDL>K<PTPDLEVGKKLPFIYGNLSQGMVSEPLEDV | 69 |
| SCN8A | RIAES-KLKKPPKADGSHR-EDDED--SKP>K<PNSDLEAGKSLPFIYGDIPQGLVAVPLEDF | 84 |
| SCN9A | RIAER-KSKEPKEE----K-KDDDE--EAP>K<PSSDLEAGKQLPFIYGDIPPGMVSEPLEDL | 78 |
| SCN10A | QIAAKQGT-KKARE-KHRE-QKDQE--EKP>R<PQLDLKACNQLPKFYGELPAELIGEPLEDL | 82 |
| SCN11A | RIAIQ-KEKKKSK-----D-QTGEV--PQP>R<PQLDLKASRKLPKLYGDIPRELIGKPLEDL | 81 |
| CACNA1A | -------------VVGSG-GGRGAG--GSR>Q<GGQ--------PGA-----------QRMYK | 49 |
| CACNA1B | ---------------RGG-GAGGAG--GPG>P<GGLQ-------PGQ-----------RVLYK | 46 |
| CACNA1C | N--------A-NAAAGLA----PEH--IPT>P<GAALSWQAAIDAARQAKLMGSAGNATISTV | 76 |
| CACNA1D | T--------R-LPLSGEG----PTSQPNSS>K<QTVLSWQAAIDAARQAKAAQTMSTSAPPPV | 77 |
| CACNA1E | --------------SD-Q-SRNRQG--TPV>P<A----------SGQ-----------AAAYK | 40 |
| CACNA1F | -------------GAGPG----PEWGLCPG>P<----P-------AV--------EGESSGAS | 43 |
| CACNA1G | F--------M--RLND------LSG--AGG>R<P-----------G-----------PGSA-- | 37 |
| CACNA1H | E--------A--ERGS------ELG--VSP>S<E-----------S-----------P-AA-- | 56 |
| CACNA1I | ---------E--PGVTTE----QPG--P-->R<S--P-------PS-----------SPPG-- | 37 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R53Q | c.158G>A | Inherited Arrhythmia | LQTS | rs199473049 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||