Paralogue Annotation for SCN5A residue 1217

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1217
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1217

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1230FGeneralized epilepsy with febrile seizures plus ?High9 21248271

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-GKVWWRLRKTCYHIVEHSWFETFIIFMIL>L<SSGALAFEDIYLEERKTIKVLLEYADKMFT1247
SCN1A-GKQWWNLRRTCFRIVEHNWFETFIVFMIL>L<SSGALAFEDIYIDQRKTIKTMLEYADKVFT1260
SCN2A-GKLWWNLRKTCYKIVEHNWFETFIVFMIL>L<SSGALAFEDIYIEQRKTIKTMLEYADKVFT1250
SCN3A-GKIWWNLRKTCYSIVEHNWFETFIVFMIL>L<SSGALAFEDIYIEQRKTIKTMLEYADKVFT1248
SCN4A-GKKWWTLRRACFKIVEHNWFETFIVFMIL>L<SSGALAFEDIYIEQRRVIRTILEYADKVFT1073
SCN7A-GKIWQNIRKTCCKIVENNWFKCFIGLVTL>L<STGTLAFEDIYMDQRKTIKILLEYADMIFT976
SCN8A-GKSWWILRKTCFLIVEHNWFETFIIFMIL>L<SSGALAFEDIYIEQRKTIRTILEYADKVFT1240
SCN9A-GKIWWNIRKTCYKIVEHSWFESFIVLMIL>L<SSGALAFEDIYIERKKTIKIILEYADKIFT1223
SCN10A-WDVGWQVRKTCYRIVEHSWFESFIIFMIL>L<SSGSLAFEDYYLDQKPTVKALLEYTDRVFT1194
SCN11A-WVIWWNLRKTCYQIVKHSWFESFIIFVIL>L<SSGALIFEDVHLENQPKIQELLNCTDIIFT1098
CACNA1AILSTTNPLRRLCHYILNLRYFEMCILMVIA>M<SSIALAAEDPV-QPNAPRNNVLRYFDYVFT1285
CACNA1BCLSPTNLLRRFCHYIVTMRYFEVVILVVIA>L<SSIALAAEDPV-RTDSPRNNALKYLDYIFT1192
CACNA1CIFSSNNRFRLQCHRIVNDTIFTNLILFFIL>L<SSISLAAEDPV-QHTSFRNHILFYFDIVFT941
CACNA1DILSKTNPIRVGCHKLINHHIFTNLILVFIM>L<SSAALAAEDPI-RSHSFRNTILGYFDYAFT947
CACNA1EIFSTTNPIRRACHYIVNLRYFEMCILLVIA>A<SSIALAAEDPV-LTNSERNKVLRYFDYVFT1194
CACNA1FCLSQTNPLRKGCHTLIHHHVFTNLILVFII>L<SSVSLAAEDPI-RAHSFRNHILGYFDYAFT912
CACNA1GIFPPQSRFRLLCHRIITHKMFDHVVLVIIF>L<NCITIAMERPKIDPHSAERIFLTLSNYIFT1318
CACNA1HLFSPQNRFRVSCQKVITHKMFDHVVLVFIF>L<NCVTIALERPDIDPGSTERVFLSVSNYIFT1336
CACNA1ILFSPENRFRVLCQTIIAHKLFDYVVLAFIF>L<NCITIALERPQIEAGSTERIFLTVSNYIFT1212
CACNA1SIFSPTNKIRVLCHRIVNATWFTNFILLFIL>L<SSAALAAEDPI-RADSMRNQILKHFDIGFT840
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu1217Argc.3650T>G UnknownSIFT:
Polyphen: