Paralogue Annotation for SCN5A residue 1295

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1295
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1295

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1308DFebrile seizuresHigh8 19522081, 26990884
CACNA1AD1338YCerebellar ataxiaMedium8 26814174

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.



SCN5AAWCWLDFLIVDVSLVSLVAN-T----LGFA>E<MGPIKSLRTLRALRPLRALSRFEGMRVVVN1325
SCN1AAWCWLDFLIVDVSLVSLTAN-A----LGYS>E<LGAIKSLRTLRALRPLRALSRFEGMRVVVN1338
SCN2AAWCWLDFLIVDVSLVSLTAN-A----LGYS>E<LGAIKSLRTLRALRPLRALSRFEGMRVVVN1328
SCN3AAWCWLDFLIVDVSLVSLVAN-A----LGYS>E<LGAIKSLRTLRALRPLRALSRFEGMRVVVN1326
SCN4AAWCWLDFLIVDVSIISLVAN-W----LGYS>E<LGPIKSLRTLRALRPLRALSRFEGMRVVVN1151
SCN7AGWYRLDFVVVIVFCLSLIGK-T----RE-->E<---LKPLISMKFLRPLRVLSQFERMKVVVR1049
SCN8AAWCWLDFLIVAVSLVSLIAN-A----LGYS>E<LGAIKSLRTLRALRPLRALSRFEGMRVVVN1318
SCN9AAWCWLDFLIVDVSLVTLVAN-T----LGYS>D<LGPIKSLRTLRALRPLRALSRFEGMRVVVN1301
SCN10AAWCWLDFLIVNISLISLTAK-I----LEYS>E<VAPIKALRTLRALRPLRALSRFEGMRVVVD1272
SCN11AAWCCLDFIIVIVSVTTLI---------N-->-<LMELKSFRTLRALRPLRALSQFEGMKVVVN1169
CACNA1ALWNILDFIVVSGALVAFAFTGN----SKGK>D<INTIKSLRVLRVLRPLKTIKRLPKLKAVFD1368
CACNA1BLWNILDFIVVSGALVAFAFS-G----SKGK>D<INTIKSLRVLRVLRPLKTIKRLPKLKAVFD1274
CACNA1CYFNILDLLVVSVSLISF----G----IQSS>A<INVVKILRVLRVLRPLRAINRAKGLKHVVQ1020
CACNA1DYFNLLDMLVVGVSLVSF----G----IQSS>A<ISVVKILRVLRVLRPLRAINRAKGLKHVVQ1026
CACNA1ELWNILDFVVVVGALVAFALANA-LGTNKGR>D<IKTIKSLRVLRVLRPLKTIKRLPKLKAVFD1280
CACNA1FWFNMLDLLVVSVSLISF----G----IHSS>A<ISVVKILRVLRVLRPLRAINRAKGLKHVVQ991
CACNA1GSWNVLDGLLVLISVIDILVS-MVSD-SGTK>I<LGMLRVLRLLRTLRPLRVISRAQGLKLVVE1403
CACNA1HSWNLLDGLLVLVSLVDIVVA-MASA-GGAK>I<LGVLRVLRLLRTLRPLRVISRAPGLKLVVE1421
CACNA1ISWNVLDGFLVFVSIIDIVVS-LASA-GGAK>I<LGVLRVLRLLRTLRPLRVISRAPGLKLVVE1297
CACNA1SYFNMLDLLVVAVSLISM----G----LESS>A<ISVVKILRVLRVLRPLRAINRAKGLKHVVQ919
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1295Kc.3883G>A Inherited ArrhythmiaLQTSrs199473218SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel. Circ Res. 2001 88(7):740-5. 11304498