Paralogue Annotation for SCN5A residue 428

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 428
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 428

No paralogue variants have been mapped to residue 428 for SCN5A.



SCN5AFLGSFYLVNLILAVVAMAYEEQNQATIAET>E<EK-EKRFQEAMEMLKK------------EH445
SCN1AFLGSFYLINLILAVVAMAYEEQNQATLEEA>E<QK-EAEFQQMIEQLKK------------QQ455
SCN2AFLGSFYLINLILAVVAMAYEEQNQATLEEA>E<QK-EAEFQQMLEQLKK------------QQ457
SCN3AFLGSFYLVNLILAVVAMAYEEQNQATLEEA>E<QK-EAEFQQMLEQLKK------------QQ456
SCN4AFLGSFYLINLILAVVAMAYAEQNEATLAED>K<EK-EEEFQQMLEKFKK------------HQ479
SCN7AFLFSFYMASLFLGILAMAYEEEKQRVGEIS>K<KI-EPKFQQTGKELQE------------GN426
SCN8AFVGSFYLVNLILAVVAMAYEEQNQATLEEA>E<QK-EAEFKAMLEQLKK------------QQ443
SCN9AFLGSFYLINLILAVVAMAYEEQNQANIEEA>K<QK-ELEFQQMLDRLKK------------EQ434
SCN10AFLGSFYLVNLILAVVTMAYEEQNQATTDEI>E<AK-EKKFQEALEMLRK------------EQ429
SCN11AFLGSFYLINLTLAVVTMAYEEQNKNVAAEI>E<AK-EKMFQEAQQLLKE------------EK432
CACNA1AIIGSFFMLNLVLGVLSGEFAKERERVENRR>A<FLKLRRQQQIERELNG------------YM393
CACNA1BIIGSFFMLNLVLGVLSGEFAKERERVENRR>A<FLKLRRQQQIERELNG------------YL389
CACNA1CIIGSFFVLNLVLGVLSGEFSKEREKAKARG>D<FQKLREKQQLEEDLKG------------YL438
CACNA1DILGSFFVLNLVLGVLSGEFSKEREKAKARG>D<FQKLREKQQLEEDLKG------------YL439
CACNA1EIIGSFFVLNLVLGVLSGEFAKERERVENRR>A<FMKLRRQQQIERELNG------------YR384
CACNA1FIFGSFFVLNLVLGVLSGEFSKEREKAKARG>D<FQKQREKQQMEEDLRG------------YL405
CACNA1GIVGSFFMINLCLVVIATQFSETKQRESQLM>R<EQRVRFLSNASTLASFSEPGSCYEELLKYL440
CACNA1HIVGSFFMINLCLVVIATQFSETKQRESQLM>R<EQRARHLSNDSTLASFSEPGSCYEELLKYV464
CACNA1IIVGSFFMINLCLVVIATQFSETKQREHRLM>L<EQRQRYLS-SSTVASYAEPGDCYEEIFQYV442
CACNA1SLLGSFFILNLVLGVLSGEFTKEREKAKSRG>T<FQKLREKQQLDEDLRG------------YM367
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E428Kc.1282G>A Inherited ArrhythmiaAFrs199473111SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaAF Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609
Inherited ArrhythmiaAF Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Inherited ArrhythmiaAF The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014 16(10):741-50. doi: 10.1038/gim.2014.29. 24784157
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381