No paralogue variants have been mapped to residue 1165 for SCN5A.
SCN5A | QIPDLGQDVKDP------------------>E<DCFTEGCVRR-CPCCAVDTTQAP---GKVW | 1191 |
SCN1A | QPVVEPEETLEP------------------>E<ACFTEGCVQR-FKCCQINVEEGR---GKQW | 1204 |
SCN2A | QPEVEPEESLEP------------------>E<ACFTEDCVRK-FKCCQISIEEGK---GKLW | 1194 |
SCN3A | QAETEPEEDLKP------------------>E<ACFTEGCIKK-FPFCQVSTEEGK---GKIW | 1192 |
SCN4A | EQAEENPEGEQP------------------>E<ECFTEACVQR-WPCLYVDISQGR---GKKW | 1017 |
SCN7A | EM----FYGGER------------------>S<KHLKNGCRRG-SSLGQISGASKK---GKIW | 920 |
SCN8A | VPVEQPEEYLDP------------------>D<ACFTEGCVQR-FKCCQVNIEEGL---GKSW | 1184 |
SCN9A | EAEAEPMNSDEP------------------>E<ACFTDGCVWR-FSCCQVNIESGK---GKIW | 1167 |
SCN10A | KIPELADDLEEP------------------>D<DCFTEGCIRH-CPCCKLDTTKSP---WDVG | 1138 |
SCN11A | LP--EMVPKKQP------------------>E<RCLPKGFGCC-FPCCSVDKRKPP---WVIW | 1042 |
CACNA1A | ---------NHTVVQVNKNANPDPLPKKEE>E<KKEEEEDDRGEDGPK-PMPPYSSMFILSTT | 1230 |
CACNA1B | ---------GEATVVPSGNVD---LESQAE>G<KKEVEADDVMRSGPR-PIVPYSSMFCLSPT | 1137 |
CACNA1C | ---------SEL----------H------->-<---------LKEKAV-PMPEASAFFIFSSN | 886 |
CACNA1D | ---------SEL----------N------->-<---------MKEKIA-PIPEGSAFFILSKT | 892 |
CACNA1E | ----------EASPLKEAEI----REDEEE>V<EKKKQKKEKRETG-K-AMVPHSSMFIFSTT | 1139 |
CACNA1F | ---------QEV----------V------->-<---------PKEKVV-PIPEGSAFFCLSQT | 857 |
CACNA1G | ---------IRA----------R------->-<---------LP-ACCLERDSWSAY-IFPPQ | 1262 |
CACNA1H | ---------LEP----------Y------->-<---------KP-QWCRSREAWALY-LFSPQ | 1280 |
CACNA1I | ---------IDV----------Y------->-<---------KP-DWCEVREDWSVY-LFSPE | 1156 |
CACNA1S | ---------AEL----------Q------->-<---------LKEKAV-PIPEASSFFIFSPT | 785 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1165Q | c.3493G>C | Putative Benign | SIFT: Polyphen: |