Paralogue Annotation for SCN5A residue 1187

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1187
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1187

No paralogue variants have been mapped to residue 1187 for SCN5A.



SCN5A-------EDCFTEGCVRR-CPCCAVDTTQA>P<---GKVWWRLRKTCYHIVEHSWFETFIIFM1214
SCN1A-------EACFTEGCVQR-FKCCQINVEEG>R<---GKQWWNLRRTCFRIVEHNWFETFIVFM1227
SCN2A-------EACFTEDCVRK-FKCCQISIEEG>K<---GKLWWNLRKTCYKIVEHNWFETFIVFM1217
SCN3A-------EACFTEGCIKK-FPFCQVSTEEG>K<---GKIWWNLRKTCYSIVEHNWFETFIVFM1215
SCN4A-------EECFTEACVQR-WPCLYVDISQG>R<---GKKWWTLRRACFKIVEHNWFETFIVFM1040
SCN7A-------SKHLKNGCRRG-SSLGQISGASK>K<---GKIWQNIRKTCCKIVENNWFKCFIGLV943
SCN8A-------DACFTEGCVQR-FKCCQVNIEEG>L<---GKSWWILRKTCFLIVEHNWFETFIIFM1207
SCN9A-------EACFTDGCVWR-FSCCQVNIESG>K<---GKIWWNIRKTCYKIVEHSWFESFIVLM1190
SCN10A-------DDCFTEGCIRH-CPCCKLDTTKS>P<---WDVGWQVRKTCYRIVEHSWFESFIIFM1161
SCN11A-------ERCLPKGFGCC-FPCCSVDKRKP>P<---WVIWWNLRKTCYQIVKHSWFESFIIFV1065
CACNA1APLPKKEEEKKEEEEDDRGEDGPK-PMPPYS>S<MFILSTTNPLRRLCHYILNLRYFEMCILMV1253
CACNA1B-LESQAEGKKEVEADDVMRSGPR-PIVPYS>S<MFCLSPTNLLRRFCHYIVTMRYFEVVILVV1160
CACNA1C-----------------LKEKAV-PMPEAS>A<FFIFSSNNRFRLQCHRIVNDTIFTNLILFF909
CACNA1D-----------------MKEKIA-PIPEGS>A<FFILSKTNPIRVGCHKLINHHIFTNLILVF915
CACNA1E-REDEEEVEKKKQKKEKRETG-K-AMVPHS>S<MFIFSTTNPIRRACHYIVNLRYFEMCILLV1162
CACNA1F-----------------PKEKVV-PIPEGS>A<FFCLSQTNPLRKGCHTLIHHHVFTNLILVF880
CACNA1G-----------------LP-ACCLERDSWS>A<Y-IFPPQSRFRLLCHRIITHKMFDHVVLVI1285
CACNA1H-----------------KP-QWCRSREAWA>L<Y-LFSPQNRFRVSCQKVITHKMFDHVVLVF1303
CACNA1I-----------------KP-DWCEVREDWS>V<Y-LFSPENRFRVLCQTIIAHKLFDYVVLAF1179
CACNA1S-----------------LKEKAV-PIPEAS>S<FFIFSPTNKIRVLCHRIVNATWFTNFILLF808
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1187Lc.3560C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS 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.P1187Qc.3560C>A Putative BenignSIFT:
Polyphen: