No paralogue variants have been mapped to residue 1816 for SCN5A.
| SCN5A | LSEDDFDMFYEIWEKFDPEATQFIEYSVLS>D<FADALSEPLR--IAK--PNQI---SLINMD | 1839 |
| SCN1A | LSEDDFEMFYEVWEKFDPDATQFMEFEKLS>Q<FAAALEPPLN--LPQ--PNKL---QLIAMD | 1853 |
| SCN2A | LSEDDFEMFYEVWEKFDPDATQFIEFAKLS>D<FADALDPPLL--IAK--PNKV---QLIAMD | 1843 |
| SCN3A | LSEDDFEMFYEVWEKFDPDATQFIEFSKLS>D<FAAALDPPLL--IAK--PNKV---QLIAMD | 1838 |
| SCN4A | LGEDDFEMFYETWEKFDPDATQFIAYSRLS>D<FVDTLQEPLR--IAK--PNKI---KLITLD | 1665 |
| SCN7A | LSEDDFRKFFQVWKRFDPDRTQYIDSSKLS>D<FAAALDPPLF--MAK--PNKG---QLIALD | 1563 |
| SCN8A | LSEDDFETFYEIWEKFDPDATQFIEYCKLA>D<FADALEHPLR--VPK--PNTI---ELIAMD | 1833 |
| SCN9A | LSEDDFEMFYEVWEKFDPDATQFIEFSKLS>D<FAAALDPPLL--IAK--PNKV---QLIAMD | 1816 |
| SCN10A | LSEDDFDMFYETWEKFDPEATQFITFSALS>D<FADTLSGPLR--IPK--PNRN---ILIQMD | 1789 |
| SCN11A | LGEDDFDIFYEVWEKFDPEATQFIKYSALS>D<FADALPEPLR--VAK--PNKY---QFLVMD | 1671 |
| CACNA1A | LGPHHLDEYVRVWAEYDPAACGRIHYKDMY>S<LLRVISPPLG--LGKKCPHRVACKRLLRMD | 1882 |
| CACNA1B | LGPHHLDEFIRVWAEYDPAACGRISYNDMF>E<MLKHMSPPLG--LGKKCPARVAYKRLVRMN | 1780 |
| CACNA1C | LGPHHLDEFKRIWAEYDPEAKGRIKHLDVV>T<LLRRIQPPLG--FGKLCPHRVACKRLVSMN | 1547 |
| CACNA1D | LGPHHLDEFKRIWSEYDPEAKGRIKHLDVV>T<LLRRIQPPLG--FGKLCPHRVACKRLVAMN | 1555 |
| CACNA1E | LGPHHLDEFVRVWAEYDRAACGRIHYTEMY>E<MLTLMSPPLG--LGKRCPSKVAYKRLVLMN | 1794 |
| CACNA1F | LGPHHLDEFKRIWSEYDPGAKGRIKHLDVV>A<LLRRIQPPLG--FGKLCPHRVACKRLVAMN | 1512 |
| CACNA1G | --EAELEAELELEMKT-LSPQPHSPLGSPF>-<LWPGVEGPDS--PDSPKPGAL--------- | 1909 |
| CACNA1H | --DAELDAEIELEMAQGPGSARRVDADRP->-<-------PLP--QESPG--AR--------D | 1910 |
| CACNA1I | --DAEMDAELELEMAHGLGPGPRLPTGSPG>A<PGR---GPGGAGGGGDT--EG---GLCRRC | 1793 |
| CACNA1S | LGPHHLDEFKAIWAEYDPEAKGRIKHLDVV>T<LLRRIQPPLG--FGKFCPHRVACKRLVGMN | 1452 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1816E | c.5448C>G | Putative Benign | SIFT: Polyphen: |