Paralogue Annotation for SCN5A residue 1220

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1220
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1220

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1233RMyoclonic epilepsy of infancyHigh9 12821740
CACNA1SA814TTakotsubo (stress) cardiomyopathyMedium9 25132214, 25735680, 27153395

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.



SCN5AVWWRLRKTCYHIVEHSWFETFIIFMILLSS>G<ALAFEDIYLEERKTIKVLLEYADKMFTYVF1250
SCN1AQWWNLRRTCFRIVEHNWFETFIVFMILLSS>G<ALAFEDIYIDQRKTIKTMLEYADKVFTYIF1263
SCN2ALWWNLRKTCYKIVEHNWFETFIVFMILLSS>G<ALAFEDIYIEQRKTIKTMLEYADKVFTYIF1253
SCN3AIWWNLRKTCYSIVEHNWFETFIVFMILLSS>G<ALAFEDIYIEQRKTIKTMLEYADKVFTYIF1251
SCN4AKWWTLRRACFKIVEHNWFETFIVFMILLSS>G<ALAFEDIYIEQRRVIRTILEYADKVFTYIF1076
SCN7AIWQNIRKTCCKIVENNWFKCFIGLVTLLST>G<TLAFEDIYMDQRKTIKILLEYADMIFTYIF979
SCN8ASWWILRKTCFLIVEHNWFETFIIFMILLSS>G<ALAFEDIYIEQRKTIRTILEYADKVFTYIF1243
SCN9AIWWNIRKTCYKIVEHSWFESFIVLMILLSS>G<ALAFEDIYIERKKTIKIILEYADKIFTYIF1226
SCN10AVGWQVRKTCYRIVEHSWFESFIIFMILLSS>G<SLAFEDYYLDQKPTVKALLEYTDRVFTFIF1197
SCN11AIWWNLRKTCYQIVKHSWFESFIIFVILLSS>G<ALIFEDVHLENQPKIQELLNCTDIIFTHIF1101
CACNA1ATTNPLRRLCHYILNLRYFEMCILMVIAMSS>I<ALAAEDPV-QPNAPRNNVLRYFDYVFTGVF1288
CACNA1BPTNLLRRFCHYIVTMRYFEVVILVVIALSS>I<ALAAEDPV-RTDSPRNNALKYLDYIFTGVF1195
CACNA1CSNNRFRLQCHRIVNDTIFTNLILFFILLSS>I<SLAAEDPV-QHTSFRNHILFYFDIVFTTIF944
CACNA1DKTNPIRVGCHKLINHHIFTNLILVFIMLSS>A<ALAAEDPI-RSHSFRNTILGYFDYAFTAIF950
CACNA1ETTNPIRRACHYIVNLRYFEMCILLVIAASS>I<ALAAEDPV-LTNSERNKVLRYFDYVFTGVF1197
CACNA1FQTNPLRKGCHTLIHHHVFTNLILVFIILSS>V<SLAAEDPI-RAHSFRNHILGYFDYAFTSIF915
CACNA1GPQSRFRLLCHRIITHKMFDHVVLVIIFLNC>I<TIAMERPKIDPHSAERIFLTLSNYIFTAVF1321
CACNA1HPQNRFRVSCQKVITHKMFDHVVLVFIFLNC>V<TIALERPDIDPGSTERVFLSVSNYIFTAIF1339
CACNA1IPENRFRVLCQTIIAHKLFDYVVLAFIFLNC>I<TIALERPQIEAGSTERIFLTVSNYIFTAIF1215
CACNA1SPTNKIRVLCHRIVNATWFTNFILLFILLSS>A<ALAAEDPI-RADSMRNQILKHFDIGFTSVF843
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1220 for SCN5A.