Paralogue Annotation for SCN5A residue 1194

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1194
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1194

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1207PMyoclonic epilepsy of infancyHigh9 18413471
CACNA1FL860PNight blindness, congenital stationary, incompleteHigh9 12111638, 24796500

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.



SCN5AFTEGCVRR-CPCCAVDTTQAP---GKVWWR>L<RKTCYHIVEHSWFETFIIFMILLSSGALAF1224
SCN1AFTEGCVQR-FKCCQINVEEGR---GKQWWN>L<RRTCFRIVEHNWFETFIVFMILLSSGALAF1237
SCN2AFTEDCVRK-FKCCQISIEEGK---GKLWWN>L<RKTCYKIVEHNWFETFIVFMILLSSGALAF1227
SCN3AFTEGCIKK-FPFCQVSTEEGK---GKIWWN>L<RKTCYSIVEHNWFETFIVFMILLSSGALAF1225
SCN4AFTEACVQR-WPCLYVDISQGR---GKKWWT>L<RRACFKIVEHNWFETFIVFMILLSSGALAF1050
SCN7ALKNGCRRG-SSLGQISGASKK---GKIWQN>I<RKTCCKIVENNWFKCFIGLVTLLSTGTLAF953
SCN8AFTEGCVQR-FKCCQVNIEEGL---GKSWWI>L<RKTCFLIVEHNWFETFIIFMILLSSGALAF1217
SCN9AFTDGCVWR-FSCCQVNIESGK---GKIWWN>I<RKTCYKIVEHSWFESFIVLMILLSSGALAF1200
SCN10AFTEGCIRH-CPCCKLDTTKSP---WDVGWQ>V<RKTCYRIVEHSWFESFIIFMILLSSGSLAF1171
SCN11ALPKGFGCC-FPCCSVDKRKPP---WVIWWN>L<RKTCYQIVKHSWFESFIIFVILLSSGALIF1075
CACNA1AEEEEDDRGEDGPK-PMPPYSSMFILSTTNP>L<RRLCHYILNLRYFEMCILMVIAMSSIALAA1263
CACNA1BEVEADDVMRSGPR-PIVPYSSMFCLSPTNL>L<RRFCHYIVTMRYFEVVILVVIALSSIALAA1170
CACNA1C-------LKEKAV-PMPEASAFFIFSSNNR>F<RLQCHRIVNDTIFTNLILFFILLSSISLAA919
CACNA1D-------MKEKIA-PIPEGSAFFILSKTNP>I<RVGCHKLINHHIFTNLILVFIMLSSAALAA925
CACNA1EKKQKKEKRETG-K-AMVPHSSMFIFSTTNP>I<RRACHYIVNLRYFEMCILLVIAASSIALAA1172
CACNA1F-------PKEKVV-PIPEGSAFFCLSQTNP>L<RKGCHTLIHHHVFTNLILVFIILSSVSLAA890
CACNA1G-------LP-ACCLERDSWSAY-IFPPQSR>F<RLLCHRIITHKMFDHVVLVIIFLNCITIAM1295
CACNA1H-------KP-QWCRSREAWALY-LFSPQNR>F<RVSCQKVITHKMFDHVVLVFIFLNCVTIAL1313
CACNA1I-------KP-DWCEVREDWSVY-LFSPENR>F<RVLCQTIIAHKLFDYVVLAFIFLNCITIAL1189
CACNA1S-------LKEKAV-PIPEASSFFIFSPTNK>I<RVLCHRIVNATWFTNFILLFILLSSAALAA818
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1194Mc.3580T>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 2016 315(1):47-57. doi: 10.1001/jama.2015.17701. 26746457