Paralogue Annotation for SCN5A residue 1318

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1318
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1318

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AE1321KSeizures, benign infantileHigh9 25982755

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.



SCN5A---LGFAEMGPIKSLRTLRALRPLRALSRF>E<GMRVVVNALVGAIPSIMNVLLVCLIFWLIF1348
SCN1A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALLGAIPSIMNVLLVCLIFWLIF1361
SCN2A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALLGAIPSIMNVLLVCLIFWLIF1351
SCN3A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALVGAIPSIMNVLLVCLIFWLIF1349
SCN4A---LGYSELGPIKSLRTLRALRPLRALSRF>E<GMRVVVNALLGAIPSIMNVLLVCLIFWLIF1174
SCN7A---RE--E---LKPLISMKFLRPLRVLSQF>E<RMKVVVRALIKTTLPTLNVFLVCLMIWLIF1072
SCN8A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALVGAIPSIMNVLLVCLIFWLIF1341
SCN9A---LGYSDLGPIKSLRTLRALRPLRALSRF>E<GMRVVVNALIGAIPSIMNVLLVCLIFWLIF1324
SCN10A---LEYSEVAPIKALRTLRALRPLRALSRF>E<GMRVVVDALVGAIPSIMNVLLVCLIFWLIF1295
SCN11A----N---LMELKSFRTLRALRPLRALSQF>E<GMKVVVNALIGAIPAILNVLLVCLIFWLVF1192
CACNA1A---SKGKDINTIKSLRVLRVLRPLKTIKRL>P<KLKAVFDCVVNSLKNVFNILIVYMLFMFIF1391
CACNA1B---SKGKDINTIKSLRVLRVLRPLKTIKRL>P<KLKAVFDCVVNSLKNVLNILIVYMLFMFIF1297
CACNA1C---IQSSAINVVKILRVLRVLRPLRAINRA>K<GLKHVVQCVFVAIRTIGNIVIVTTLLQFMF1043
CACNA1D---IQSSAISVVKILRVLRVLRPLRAINRA>K<GLKHVVQCVFVAIRTIGNIMIVTTLLQFMF1049
CACNA1ELGTNKGRDIKTIKSLRVLRVLRPLKTIKRL>P<KLKAVFDCVVTSLKNVFNILIVYKLFMFIF1303
CACNA1F---IHSSAISVVKILRVLRVLRPLRAINRA>K<GLKHVVQCVFVAIRTIGNIMIVTTLLQFMF1014
CACNA1GSD-SGTKILGMLRVLRLLRTLRPLRVISRA>Q<GLKLVVETLMSSLKPIGNIVVICCAFFIIF1426
CACNA1HSA-GGAKILGVLRVLRLLRTLRPLRVISRA>P<GLKLVVETLISSLRPIGNIVLICCAFFIIF1444
CACNA1ISA-GGAKILGVLRVLRLLRTLRPLRVISRA>P<GLKLVVETLISSLKPIGNIVLICCAFFIIF1320
CACNA1S---LESSAISVVKILRVLRVLRPLRAINRA>K<GLKHVVQCMFVAISTIGNIVLVTTLLQFMF942
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1318 for SCN5A.