No paralogue variants have been mapped to residue 1175 for SCN5A.
SCN5A | DP------------------EDCFTEGCVR>R<-CPCCAVDTTQAP---GKVWWRLRKTCYHI | 1201 |
SCN1A | EP------------------EACFTEGCVQ>R<-FKCCQINVEEGR---GKQWWNLRRTCFRI | 1214 |
SCN2A | EP------------------EACFTEDCVR>K<-FKCCQISIEEGK---GKLWWNLRKTCYKI | 1204 |
SCN3A | KP------------------EACFTEGCIK>K<-FPFCQVSTEEGK---GKIWWNLRKTCYSI | 1202 |
SCN4A | QP------------------EECFTEACVQ>R<-WPCLYVDISQGR---GKKWWTLRRACFKI | 1027 |
SCN7A | ER------------------SKHLKNGCRR>G<-SSLGQISGASKK---GKIWQNIRKTCCKI | 930 |
SCN8A | DP------------------DACFTEGCVQ>R<-FKCCQVNIEEGL---GKSWWILRKTCFLI | 1194 |
SCN9A | EP------------------EACFTDGCVW>R<-FSCCQVNIESGK---GKIWWNIRKTCYKI | 1177 |
SCN10A | EP------------------DDCFTEGCIR>H<-CPCCKLDTTKSP---WDVGWQVRKTCYRI | 1148 |
SCN11A | QP------------------ERCLPKGFGC>C<-FPCCSVDKRKPP---WVIWWNLRKTCYQI | 1052 |
CACNA1A | HTVVQVNKNANPDPLPKKEEEKKEEEEDDR>G<EDGPK-PMPPYSSMFILSTTNPLRRLCHYI | 1240 |
CACNA1B | EATVVPSGNVD---LESQAEGKKEVEADDV>M<RSGPR-PIVPYSSMFCLSPTNLLRRFCHYI | 1147 |
CACNA1C | EL----------H----------------->L<KEKAV-PMPEASAFFIFSSNNRFRLQCHRI | 896 |
CACNA1D | EL----------N----------------->M<KEKIA-PIPEGSAFFILSKTNPIRVGCHKL | 902 |
CACNA1E | EASPLKEAEI----REDEEEVEKKKQKKEK>R<ETG-K-AMVPHSSMFIFSTTNPIRRACHYI | 1149 |
CACNA1F | EV----------V----------------->P<KEKVV-PIPEGSAFFCLSQTNPLRKGCHTL | 867 |
CACNA1G | RA----------R----------------->L<P-ACCLERDSWSAY-IFPPQSRFRLLCHRI | 1272 |
CACNA1H | EP----------Y----------------->K<P-QWCRSREAWALY-LFSPQNRFRVSCQKV | 1290 |
CACNA1I | DV----------Y----------------->K<P-DWCEVREDWSVY-LFSPENRFRVLCQTI | 1166 |
CACNA1S | EL----------Q----------------->L<KEKAV-PIPEASSFFIFSPTNKIRVLCHRI | 795 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1175C | c.3523C>T | Inherited Arrhythmia | LQTS | rs199473200 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Gene symbol: SCN5A. Hum Genet. 2007 120(6):911-2. 17438607 | ||
p.R1175H | c.3524G>A | Putative Benign | rs374314562 | SIFT: tolerated Polyphen: benign |