No paralogue variants have been mapped to residue 1173 for SCN5A.
| SCN5A | VKDP------------------EDCFTEGC>V<RR-CPCCAVDTTQAP---GKVWWRLRKTCY | 1199 |
| SCN1A | TLEP------------------EACFTEGC>V<QR-FKCCQINVEEGR---GKQWWNLRRTCF | 1212 |
| SCN2A | SLEP------------------EACFTEDC>V<RK-FKCCQISIEEGK---GKLWWNLRKTCY | 1202 |
| SCN3A | DLKP------------------EACFTEGC>I<KK-FPFCQVSTEEGK---GKIWWNLRKTCY | 1200 |
| SCN4A | GEQP------------------EECFTEAC>V<QR-WPCLYVDISQGR---GKKWWTLRRACF | 1025 |
| SCN7A | GGER------------------SKHLKNGC>R<RG-SSLGQISGASKK---GKIWQNIRKTCC | 928 |
| SCN8A | YLDP------------------DACFTEGC>V<QR-FKCCQVNIEEGL---GKSWWILRKTCF | 1192 |
| SCN9A | SDEP------------------EACFTDGC>V<WR-FSCCQVNIESGK---GKIWWNIRKTCY | 1175 |
| SCN10A | LEEP------------------DDCFTEGC>I<RH-CPCCKLDTTKSP---WDVGWQVRKTCY | 1146 |
| SCN11A | KKQP------------------ERCLPKGF>G<CC-FPCCSVDKRKPP---WVIWWNLRKTCY | 1050 |
| CACNA1A | -NHTVVQVNKNANPDPLPKKEEEKKEEEED>D<RGEDGPK-PMPPYSSMFILSTTNPLRRLCH | 1238 |
| CACNA1B | -GEATVVPSGNVD---LESQAEGKKEVEAD>D<VMRSGPR-PIVPYSSMFCLSPTNLLRRFCH | 1145 |
| CACNA1C | -SEL----------H--------------->-<-LKEKAV-PMPEASAFFIFSSNNRFRLQCH | 894 |
| CACNA1D | -SEL----------N--------------->-<-MKEKIA-PIPEGSAFFILSKTNPIRVGCH | 900 |
| CACNA1E | --EASPLKEAEI----REDEEEVEKKKQKK>E<KRETG-K-AMVPHSSMFIFSTTNPIRRACH | 1147 |
| CACNA1F | -QEV----------V--------------->-<-PKEKVV-PIPEGSAFFCLSQTNPLRKGCH | 865 |
| CACNA1G | -IRA----------R--------------->-<-LP-ACCLERDSWSAY-IFPPQSRFRLLCH | 1270 |
| CACNA1H | -LEP----------Y--------------->-<-KP-QWCRSREAWALY-LFSPQNRFRVSCQ | 1288 |
| CACNA1I | -IDV----------Y--------------->-<-KP-DWCEVREDWSVY-LFSPENRFRVLCQ | 1164 |
| CACNA1S | -AEL----------Q--------------->-<-LKEKAV-PIPEASSFFIFSPTNKIRVLCH | 793 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V1173D | c.3518T>A | Putative Benign | SIFT: Polyphen: |