Paralogue Annotation for SCN5A residue 1184

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1184
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1184

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AE1160QDravet syndrome ?Medium4 19763161

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5A----------EDCFTEGCVRR-CPCCAVDT>T<QAP---GKVWWRLRKTCYHIVEHSWFETFI1211
SCN1A----------EACFTEGCVQR-FKCCQINV>E<EGR---GKQWWNLRRTCFRIVEHNWFETFI1224
SCN2A----------EACFTEDCVRK-FKCCQISI>E<EGK---GKLWWNLRKTCYKIVEHNWFETFI1214
SCN3A----------EACFTEGCIKK-FPFCQVST>E<EGK---GKIWWNLRKTCYSIVEHNWFETFI1212
SCN4A----------EECFTEACVQR-WPCLYVDI>S<QGR---GKKWWTLRRACFKIVEHNWFETFI1037
SCN7A----------SKHLKNGCRRG-SSLGQISG>A<SKK---GKIWQNIRKTCCKIVENNWFKCFI940
SCN8A----------DACFTEGCVQR-FKCCQVNI>E<EGL---GKSWWILRKTCFLIVEHNWFETFI1204
SCN9A----------EACFTDGCVWR-FSCCQVNI>E<SGK---GKIWWNIRKTCYKIVEHSWFESFI1187
SCN10A----------DDCFTEGCIRH-CPCCKLDT>T<KSP---WDVGWQVRKTCYRIVEHSWFESFI1158
SCN11A----------ERCLPKGFGCC-FPCCSVDK>R<KPP---WVIWWNLRKTCYQIVKHSWFESFI1062
CACNA1ANPDPLPKKEEEKKEEEEDDRGEDGPK-PMP>P<YSSMFILSTTNPLRRLCHYILNLRYFEMCI1250
CACNA1BD---LESQAEGKKEVEADDVMRSGPR-PIV>P<YSSMFCLSPTNLLRRFCHYIVTMRYFEVVI1157
CACNA1C--H-----------------LKEKAV-PMP>E<ASAFFIFSSNNRFRLQCHRIVNDTIFTNLI906
CACNA1D--N-----------------MKEKIA-PIP>E<GSAFFILSKTNPIRVGCHKLINHHIFTNLI912
CACNA1E----REDEEEVEKKKQKKEKRETG-K-AMV>P<HSSMFIFSTTNPIRRACHYIVNLRYFEMCI1159
CACNA1F--V-----------------PKEKVV-PIP>E<GSAFFCLSQTNPLRKGCHTLIHHHVFTNLI877
CACNA1G--R-----------------LP-ACCLERD>S<WSAY-IFPPQSRFRLLCHRIITHKMFDHVV1282
CACNA1H--Y-----------------KP-QWCRSRE>A<WALY-LFSPQNRFRVSCQKVITHKMFDHVV1300
CACNA1I--Y-----------------KP-DWCEVRE>D<WSVY-LFSPENRFRVLCQTIIAHKLFDYVV1176
CACNA1S--Q-----------------LKEKAV-PIP>E<ASSFFIFSPTNKIRVLCHRIVNATWFTNFI805
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1184 for SCN5A.