Paralogue Annotation for SCN5A residue 1292

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1292
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1292

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AK1336EHemiplegic migraineMedium7 11439943, 19242091, 23430985

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.



SCN5AFTNAWCWLDFLIVDVSLVSLVAN-T----L>G<FAEMGPIKSLRTLRALRPLRALSRFEGMRV1322
SCN1AFTNAWCWLDFLIVDVSLVSLTAN-A----L>G<YSELGAIKSLRTLRALRPLRALSRFEGMRV1335
SCN2AFTNAWCWLDFLIVDVSLVSLTAN-A----L>G<YSELGAIKSLRTLRALRPLRALSRFEGMRV1325
SCN3AFTNAWCWLDFLIVDVSLVSLVAN-A----L>G<YSELGAIKSLRTLRALRPLRALSRFEGMRV1323
SCN4AFTNAWCWLDFLIVDVSIISLVAN-W----L>G<YSELGPIKSLRTLRALRPLRALSRFEGMRV1148
SCN7AFSNGWYRLDFVVVIVFCLSLIGK-T----R>E<--E---LKPLISMKFLRPLRVLSQFERMKV1046
SCN8AFTNAWCWLDFLIVAVSLVSLIAN-A----L>G<YSELGAIKSLRTLRALRPLRALSRFEGMRV1315
SCN9AFTNAWCWLDFLIVDVSLVTLVAN-T----L>G<YSDLGPIKSLRTLRALRPLRALSRFEGMRV1298
SCN10AFTNAWCWLDFLIVNISLISLTAK-I----L>E<YSEVAPIKALRTLRALRPLRALSRFEGMRV1269
SCN11AFTSAWCCLDFIIVIVSVTTLI--------->N<---LMELKSFRTLRALRPLRALSQFEGMKV1166
CACNA1AFRDLWNILDFIVVSGALVAFAFTGN----S>K<GKDINTIKSLRVLRVLRPLKTIKRLPKLKA1365
CACNA1BFRDLWNILDFIVVSGALVAFAFS-G----S>K<GKDINTIKSLRVLRVLRPLKTIKRLPKLKA1271
CACNA1CCRNYFNILDLLVVSVSLISF----G----I>Q<SSAINVVKILRVLRVLRPLRAINRAKGLKH1017
CACNA1DCRNYFNLLDMLVVGVSLVSF----G----I>Q<SSAISVVKILRVLRVLRPLRAINRAKGLKH1023
CACNA1EFRDLWNILDFVVVVGALVAFALANA-LGTN>K<GRDIKTIKSLRVLRVLRPLKTIKRLPKLKA1277
CACNA1FCRSWFNMLDLLVVSVSLISF----G----I>H<SSAISVVKILRVLRVLRPLRAINRAKGLKH988
CACNA1GLRSSWNVLDGLLVLISVIDILVS-MVSD-S>G<TKILGMLRVLRLLRTLRPLRVISRAQGLKL1400
CACNA1HLQSSWNLLDGLLVLVSLVDIVVA-MASA-G>G<AKILGVLRVLRLLRTLRPLRVISRAPGLKL1418
CACNA1ILRSSWNVLDGFLVFVSIIDIVVS-LASA-G>G<AKILGVLRVLRLLRTLRPLRVISRAPGLKL1294
CACNA1SCRNYFNMLDLLVVAVSLISM----G----L>E<SSAISVVKILRVLRVLRPLRAINRAKGLKH916
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1292 for SCN5A.