No paralogue variants have been mapped to residue 52 for SCN5A.
| SCN5A | KRMAEK-QARGSTTLQESRE-GLPEE--EA>P<RPQLDLQASKKLPDLYGNPPQELIGEPLED | 82 |
| SCN1A | RRIAEE-KAKNPKPD----K-KDDDE--NG>P<KPNSDLEAGKNLPFIYGDIPPEMVSEPLED | 79 |
| SCN2A | QRIAEE-KAKRPKQE----RKDEDDE--NG>P<KPNSDLEAGKSLPFIYGDIPPEMVSVPLED | 80 |
| SCN3A | KRAAEE-KAKKPKKE----Q-DNDDE--NK>P<KPNSDLEAGKNLPFIYGDIPPEMVSEPLED | 79 |
| SCN4A | QRAVEE-EARLQRNK----Q-MEIEE--PE>R<KPRSDLEAGKNLPMIYGDPPPEVIGIPLED | 82 |
| SCN7A | QHIAKT--------H----N-EDHEE--ED>L<KPTPDLEVGKKLPFIYGNLSQGMVSEPLED | 68 |
| SCN8A | RRIAES-KLKKPPKADGSHR-EDDED--SK>P<KPNSDLEAGKSLPFIYGDIPQGLVAVPLED | 83 |
| SCN9A | QRIAER-KSKEPKEE----K-KDDDE--EA>P<KPSSDLEAGKQLPFIYGDIPPGMVSEPLED | 77 |
| SCN10A | KQIAAKQGT-KKARE-KHRE-QKDQE--EK>P<RPQLDLKACNQLPKFYGELPAELIGEPLED | 81 |
| SCN11A | KRIAIQ-KEKKKSK-----D-QTGEV--PQ>P<RPQLDLKASRKLPKLYGDIPRELIGKPLED | 80 |
| CACNA1A | V-------------VVGSG-GGRGAG--GS>R<QGGQ--------PGA-----------QRMY | 48 |
| CACNA1B | ----------------RGG-GAGGAG--GP>G<PGGLQ-------PGQ-----------RVLY | 45 |
| CACNA1C | MN--------A-NAAAGLA----PEH--IP>T<PGAALSWQAAIDAARQAKLMGSAGNATIST | 75 |
| CACNA1D | GT--------R-LPLSGEG----PTSQPNS>S<KQTVLSWQAAIDAARQAKAAQTMSTSAPPP | 76 |
| CACNA1E | ---------------SD-Q-SRNRQG--TP>V<PA----------SGQ-----------AAAY | 39 |
| CACNA1F | --------------GAGPG----PEWGLCP>G<P----P-------AV--------EGESSGA | 42 |
| CACNA1G | -F--------M--RLND------LSG--AG>G<RP-----------G-----------PGSA- | 37 |
| CACNA1H | RE--------A--ERGS------ELG--VS>P<SE-----------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.P52S | c.154C>T | Inherited Arrhythmia | LQTS | rs199473553 | SIFT: deleterious 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 | ||
| p.P52H | c.155C>A | Putative Benign | SIFT: Polyphen: | ||