No paralogue variants have been mapped to residue 1167 for SCN5A.
| SCN5A | PDLGQDVKDP------------------ED>C<FTEGCVRR-CPCCAVDTTQAP---GKVWWR | 1193 |
| SCN1A | VVEPEETLEP------------------EA>C<FTEGCVQR-FKCCQINVEEGR---GKQWWN | 1206 |
| SCN2A | EVEPEESLEP------------------EA>C<FTEDCVRK-FKCCQISIEEGK---GKLWWN | 1196 |
| SCN3A | ETEPEEDLKP------------------EA>C<FTEGCIKK-FPFCQVSTEEGK---GKIWWN | 1194 |
| SCN4A | AEENPEGEQP------------------EE>C<FTEACVQR-WPCLYVDISQGR---GKKWWT | 1019 |
| SCN7A | ----FYGGER------------------SK>H<LKNGCRRG-SSLGQISGASKK---GKIWQN | 922 |
| SCN8A | VEQPEEYLDP------------------DA>C<FTEGCVQR-FKCCQVNIEEGL---GKSWWI | 1186 |
| SCN9A | EAEPMNSDEP------------------EA>C<FTDGCVWR-FSCCQVNIESGK---GKIWWN | 1169 |
| SCN10A | PELADDLEEP------------------DD>C<FTEGCIRH-CPCCKLDTTKSP---WDVGWQ | 1140 |
| SCN11A | --EMVPKKQP------------------ER>C<LPKGFGCC-FPCCSVDKRKPP---WVIWWN | 1044 |
| CACNA1A | -------NHTVVQVNKNANPDPLPKKEEEK>K<EEEEDDRGEDGPK-PMPPYSSMFILSTTNP | 1232 |
| CACNA1B | -------GEATVVPSGNVD---LESQAEGK>K<EVEADDVMRSGPR-PIVPYSSMFCLSPTNL | 1139 |
| CACNA1C | -------SEL----------H--------->-<-------LKEKAV-PMPEASAFFIFSSNNR | 888 |
| CACNA1D | -------SEL----------N--------->-<-------MKEKIA-PIPEGSAFFILSKTNP | 894 |
| CACNA1E | --------EASPLKEAEI----REDEEEVE>K<KKQKKEKRETG-K-AMVPHSSMFIFSTTNP | 1141 |
| CACNA1F | -------QEV----------V--------->-<-------PKEKVV-PIPEGSAFFCLSQTNP | 859 |
| CACNA1G | -------IRA----------R--------->-<-------LP-ACCLERDSWSAY-IFPPQSR | 1264 |
| CACNA1H | -------LEP----------Y--------->-<-------KP-QWCRSREAWALY-LFSPQNR | 1282 |
| CACNA1I | -------IDV----------Y--------->-<-------KP-DWCEVREDWSVY-LFSPENR | 1158 |
| CACNA1S | -------AEL----------Q--------->-<-------LKEKAV-PIPEASSFFIFSPTNK | 787 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C1167Y | c.3500G>A | Unknown | SIFT: deleterious Polyphen: possibly damaging |