Paralogue Annotation for SCN5A residue 1197

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1197
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1197

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1210KMyoclonic epilepsy of infancyHigh9 19350499, 24168886

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.



SCN5AGCVRR-CPCCAVDTTQAP---GKVWWRLRK>T<CYHIVEHSWFETFIIFMILLSSGALAFEDI1227
SCN1AGCVQR-FKCCQINVEEGR---GKQWWNLRR>T<CFRIVEHNWFETFIVFMILLSSGALAFEDI1240
SCN2ADCVRK-FKCCQISIEEGK---GKLWWNLRK>T<CYKIVEHNWFETFIVFMILLSSGALAFEDI1230
SCN3AGCIKK-FPFCQVSTEEGK---GKIWWNLRK>T<CYSIVEHNWFETFIVFMILLSSGALAFEDI1228
SCN4AACVQR-WPCLYVDISQGR---GKKWWTLRR>A<CFKIVEHNWFETFIVFMILLSSGALAFEDI1053
SCN7AGCRRG-SSLGQISGASKK---GKIWQNIRK>T<CCKIVENNWFKCFIGLVTLLSTGTLAFEDI956
SCN8AGCVQR-FKCCQVNIEEGL---GKSWWILRK>T<CFLIVEHNWFETFIIFMILLSSGALAFEDI1220
SCN9AGCVWR-FSCCQVNIESGK---GKIWWNIRK>T<CYKIVEHSWFESFIVLMILLSSGALAFEDI1203
SCN10AGCIRH-CPCCKLDTTKSP---WDVGWQVRK>T<CYRIVEHSWFESFIIFMILLSSGSLAFEDY1174
SCN11AGFGCC-FPCCSVDKRKPP---WVIWWNLRK>T<CYQIVKHSWFESFIIFVILLSSGALIFEDV1078
CACNA1AEDDRGEDGPK-PMPPYSSMFILSTTNPLRR>L<CHYILNLRYFEMCILMVIAMSSIALAAEDP1266
CACNA1BADDVMRSGPR-PIVPYSSMFCLSPTNLLRR>F<CHYIVTMRYFEVVILVVIALSSIALAAEDP1173
CACNA1C----LKEKAV-PMPEASAFFIFSSNNRFRL>Q<CHRIVNDTIFTNLILFFILLSSISLAAEDP922
CACNA1D----MKEKIA-PIPEGSAFFILSKTNPIRV>G<CHKLINHHIFTNLILVFIMLSSAALAAEDP928
CACNA1EKKEKRETG-K-AMVPHSSMFIFSTTNPIRR>A<CHYIVNLRYFEMCILLVIAASSIALAAEDP1175
CACNA1F----PKEKVV-PIPEGSAFFCLSQTNPLRK>G<CHTLIHHHVFTNLILVFIILSSVSLAAEDP893
CACNA1G----LP-ACCLERDSWSAY-IFPPQSRFRL>L<CHRIITHKMFDHVVLVIIFLNCITIAMERP1298
CACNA1H----KP-QWCRSREAWALY-LFSPQNRFRV>S<CQKVITHKMFDHVVLVFIFLNCVTIALERP1316
CACNA1I----KP-DWCEVREDWSVY-LFSPENRFRV>L<CQTIIAHKLFDYVVLAFIFLNCITIALERP1192
CACNA1S----LKEKAV-PIPEASSFFIFSPTNKIRV>L<CHRIVNATWFTNFILLFILLSSAALAAEDP821
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1197 for SCN5A.