Paralogue Annotation for SCN5A residue 1312

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1312
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1312

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR1325TIntractable epilepsyHigh9 23195492

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.



SCN5AVAN-T----LGFAEMGPIKSLRTLRALRPL>R<ALSRFEGMRVVVNALVGAIPSIMNVLLVCL1342
SCN1ATAN-A----LGYSELGAIKSLRTLRALRPL>R<ALSRFEGMRVVVNALLGAIPSIMNVLLVCL1355
SCN2ATAN-A----LGYSELGAIKSLRTLRALRPL>R<ALSRFEGMRVVVNALLGAIPSIMNVLLVCL1345
SCN3AVAN-A----LGYSELGAIKSLRTLRALRPL>R<ALSRFEGMRVVVNALVGAIPSIMNVLLVCL1343
SCN4AVAN-W----LGYSELGPIKSLRTLRALRPL>R<ALSRFEGMRVVVNALLGAIPSIMNVLLVCL1168
SCN7AIGK-T----RE--E---LKPLISMKFLRPL>R<VLSQFERMKVVVRALIKTTLPTLNVFLVCL1066
SCN8AIAN-A----LGYSELGAIKSLRTLRALRPL>R<ALSRFEGMRVVVNALVGAIPSIMNVLLVCL1335
SCN9AVAN-T----LGYSDLGPIKSLRTLRALRPL>R<ALSRFEGMRVVVNALIGAIPSIMNVLLVCL1318
SCN10ATAK-I----LEYSEVAPIKALRTLRALRPL>R<ALSRFEGMRVVVDALVGAIPSIMNVLLVCL1289
SCN11AI---------N---LMELKSFRTLRALRPL>R<ALSQFEGMKVVVNALIGAIPAILNVLLVCL1186
CACNA1AAFTGN----SKGKDINTIKSLRVLRVLRPL>K<TIKRLPKLKAVFDCVVNSLKNVFNILIVYM1385
CACNA1BAFS-G----SKGKDINTIKSLRVLRVLRPL>K<TIKRLPKLKAVFDCVVNSLKNVLNILIVYM1291
CACNA1C----G----IQSSAINVVKILRVLRVLRPL>R<AINRAKGLKHVVQCVFVAIRTIGNIVIVTT1037
CACNA1D----G----IQSSAISVVKILRVLRVLRPL>R<AINRAKGLKHVVQCVFVAIRTIGNIMIVTT1043
CACNA1EALANA-LGTNKGRDIKTIKSLRVLRVLRPL>K<TIKRLPKLKAVFDCVVTSLKNVFNILIVYK1297
CACNA1F----G----IHSSAISVVKILRVLRVLRPL>R<AINRAKGLKHVVQCVFVAIRTIGNIMIVTT1008
CACNA1GLVS-MVSD-SGTKILGMLRVLRLLRTLRPL>R<VISRAQGLKLVVETLMSSLKPIGNIVVICC1420
CACNA1HVVA-MASA-GGAKILGVLRVLRLLRTLRPL>R<VISRAPGLKLVVETLISSLRPIGNIVLICC1438
CACNA1IVVS-LASA-GGAKILGVLRVLRLLRTLRPL>R<VISRAPGLKLVVETLISSLKPIGNIVLICC1314
CACNA1S----G----LESSAISVVKILRVLRVLRPL>R<AINRAKGLKHVVQCMFVAISTIGNIVLVTT936
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1312 for SCN5A.