No paralogue variants have been mapped to residue 1187 for SCN5A.
SCN5A | -------EDCFTEGCVRR-CPCCAVDTTQA>P<---GKVWWRLRKTCYHIVEHSWFETFIIFM | 1214 |
SCN1A | -------EACFTEGCVQR-FKCCQINVEEG>R<---GKQWWNLRRTCFRIVEHNWFETFIVFM | 1227 |
SCN2A | -------EACFTEDCVRK-FKCCQISIEEG>K<---GKLWWNLRKTCYKIVEHNWFETFIVFM | 1217 |
SCN3A | -------EACFTEGCIKK-FPFCQVSTEEG>K<---GKIWWNLRKTCYSIVEHNWFETFIVFM | 1215 |
SCN4A | -------EECFTEACVQR-WPCLYVDISQG>R<---GKKWWTLRRACFKIVEHNWFETFIVFM | 1040 |
SCN7A | -------SKHLKNGCRRG-SSLGQISGASK>K<---GKIWQNIRKTCCKIVENNWFKCFIGLV | 943 |
SCN8A | -------DACFTEGCVQR-FKCCQVNIEEG>L<---GKSWWILRKTCFLIVEHNWFETFIIFM | 1207 |
SCN9A | -------EACFTDGCVWR-FSCCQVNIESG>K<---GKIWWNIRKTCYKIVEHSWFESFIVLM | 1190 |
SCN10A | -------DDCFTEGCIRH-CPCCKLDTTKS>P<---WDVGWQVRKTCYRIVEHSWFESFIIFM | 1161 |
SCN11A | -------ERCLPKGFGCC-FPCCSVDKRKP>P<---WVIWWNLRKTCYQIVKHSWFESFIIFV | 1065 |
CACNA1A | PLPKKEEEKKEEEEDDRGEDGPK-PMPPYS>S<MFILSTTNPLRRLCHYILNLRYFEMCILMV | 1253 |
CACNA1B | -LESQAEGKKEVEADDVMRSGPR-PIVPYS>S<MFCLSPTNLLRRFCHYIVTMRYFEVVILVV | 1160 |
CACNA1C | -----------------LKEKAV-PMPEAS>A<FFIFSSNNRFRLQCHRIVNDTIFTNLILFF | 909 |
CACNA1D | -----------------MKEKIA-PIPEGS>A<FFILSKTNPIRVGCHKLINHHIFTNLILVF | 915 |
CACNA1E | -REDEEEVEKKKQKKEKRETG-K-AMVPHS>S<MFIFSTTNPIRRACHYIVNLRYFEMCILLV | 1162 |
CACNA1F | -----------------PKEKVV-PIPEGS>A<FFCLSQTNPLRKGCHTLIHHHVFTNLILVF | 880 |
CACNA1G | -----------------LP-ACCLERDSWS>A<Y-IFPPQSRFRLLCHRIITHKMFDHVVLVI | 1285 |
CACNA1H | -----------------KP-QWCRSREAWA>L<Y-LFSPQNRFRVSCQKVITHKMFDHVVLVF | 1303 |
CACNA1I | -----------------KP-DWCEVREDWS>V<Y-LFSPENRFRVLCQTIIAHKLFDYVVLAF | 1179 |
CACNA1S | -----------------LKEKAV-PIPEAS>S<FFIFSPTNKIRVLCHRIVNATWFTNFILLF | 808 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1187L | c.3560C>T | Inherited Arrhythmia | LQTS | rs199473201 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782 | ||
p.P1187Q | c.3560C>A | Putative Benign | SIFT: Polyphen: |