No paralogue variants have been mapped to residue 1812 for SCN5A.
| SCN5A | STEPLSEDDFDMFYEIWEKFDPEATQFIEY>S<VLSDFADALSEPLR--IAK--PNQI---SL | 1835 |
| SCN1A | SAEPLSEDDFEMFYEVWEKFDPDATQFMEF>E<KLSQFAAALEPPLN--LPQ--PNKL---QL | 1849 |
| SCN2A | SAEPLSEDDFEMFYEVWEKFDPDATQFIEF>A<KLSDFADALDPPLL--IAK--PNKV---QL | 1839 |
| SCN3A | SAEPLSEDDFEMFYEVWEKFDPDATQFIEF>S<KLSDFAAALDPPLL--IAK--PNKV---QL | 1834 |
| SCN4A | SSEPLGEDDFEMFYETWEKFDPDATQFIAY>S<RLSDFVDTLQEPLR--IAK--PNKI---KL | 1661 |
| SCN7A | KNKTLSEDDFRKFFQVWKRFDPDRTQYIDS>S<KLSDFAAALDPPLF--MAK--PNKG---QL | 1559 |
| SCN8A | SADPLSEDDFETFYEIWEKFDPDATQFIEY>C<KLADFADALEHPLR--VPK--PNTI---EL | 1829 |
| SCN9A | STEPLSEDDFEMFYEVWEKFDPDATQFIEF>S<KLSDFAAALDPPLL--IAK--PNKV---QL | 1812 |
| SCN10A | STEPLSEDDFDMFYETWEKFDPEATQFITF>S<ALSDFADTLSGPLR--IPK--PNRN---IL | 1785 |
| SCN11A | SEDPLGEDDFDIFYEVWEKFDPEATQFIKY>S<ALSDFADALPEPLR--VAK--PNKY---QF | 1667 |
| CACNA1A | SSI-LGPHHLDEYVRVWAEYDPAACGRIHY>K<DMYSLLRVISPPLG--LGKKCPHRVACKRL | 1878 |
| CACNA1B | SSI-LGPHHLDEFIRVWAEYDPAACGRISY>N<DMFEMLKHMSPPLG--LGKKCPARVAYKRL | 1776 |
| CACNA1C | WSI-LGPHHLDEFKRIWAEYDPEAKGRIKH>L<DVVTLLRRIQPPLG--FGKLCPHRVACKRL | 1543 |
| CACNA1D | WSI-LGPHHLDEFKRIWSEYDPEAKGRIKH>L<DVVTLLRRIQPPLG--FGKLCPHRVACKRL | 1551 |
| CACNA1E | SSI-LGPHHLDEFVRVWAEYDRAACGRIHY>T<EMYEMLTLMSPPLG--LGKRCPSKVAYKRL | 1790 |
| CACNA1F | WSI-LGPHHLDEFKRIWSEYDPGAKGRIKH>L<DVVALLRRIQPPLG--FGKLCPHRVACKRL | 1508 |
| CACNA1G | AKE---EAELEAELELEMKT-LSPQPHSPL>G<SPF-LWPGVEGPDS--PDSPKPGAL----- | 1909 |
| CACNA1H | ARE---DAELDAEIELEMAQGPGSARRVDA>D<RP---------PLP--QESPG--AR----- | 1909 |
| CACNA1I | AQE---DAEMDAELELEMAHGLGPGPRLPT>G<SPGAPGR---GPGGAGGGGDT--EG---GL | 1789 |
| CACNA1S | WSI-LGPHHLDEFKAIWAEYDPEAKGRIKH>L<DVVTLLRRIQPPLG--FGKFCPHRVACKRL | 1448 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1812L | c.5435C>T | Putative Benign | rs371891414 | SIFT: deleterious Polyphen: benign |