Paralogue Annotation for SCN5A residue 1322

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1322
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1322

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1335MMyoclonic epilepsy of infancyHigh9 18413471, 24168886
SCN9AV1298FParoxysmal extreme pain disorderHigh9 17145499, 18599537, 20429905
SCN9AV1298DParoxysmal extreme pain disorderHigh9 17145499
SCN8AV1315MEpileptic encephalopathy, infantileHigh9 26993267

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.



SCN5AGFAEMGPIKSLRTLRALRPLRALSRFEGMR>V<VVNALVGAIPSIMNVLLVCLIFWLIFSIMG1352
SCN1AGYSELGAIKSLRTLRALRPLRALSRFEGMR>V<VVNALLGAIPSIMNVLLVCLIFWLIFSIMG1365
SCN2AGYSELGAIKSLRTLRALRPLRALSRFEGMR>V<VVNALLGAIPSIMNVLLVCLIFWLIFSIMG1355
SCN3AGYSELGAIKSLRTLRALRPLRALSRFEGMR>V<VVNALVGAIPSIMNVLLVCLIFWLIFSIMG1353
SCN4AGYSELGPIKSLRTLRALRPLRALSRFEGMR>V<VVNALLGAIPSIMNVLLVCLIFWLIFSIMG1178
SCN7AE--E---LKPLISMKFLRPLRVLSQFERMK>V<VVRALIKTTLPTLNVFLVCLMIWLIFSIMG1076
SCN8AGYSELGAIKSLRTLRALRPLRALSRFEGMR>V<VVNALVGAIPSIMNVLLVCLIFWLIFSIMG1345
SCN9AGYSDLGPIKSLRTLRALRPLRALSRFEGMR>V<VVNALIGAIPSIMNVLLVCLIFWLIFSIMG1328
SCN10AEYSEVAPIKALRTLRALRPLRALSRFEGMR>V<VVDALVGAIPSIMNVLLVCLIFWLIFSIMG1299
SCN11AN---LMELKSFRTLRALRPLRALSQFEGMK>V<VVNALIGAIPAILNVLLVCLIFWLVFCILG1196
CACNA1AKGKDINTIKSLRVLRVLRPLKTIKRLPKLK>A<VFDCVVNSLKNVFNILIVYMLFMFIFAVVA1395
CACNA1BKGKDINTIKSLRVLRVLRPLKTIKRLPKLK>A<VFDCVVNSLKNVLNILIVYMLFMFIFAVIA1301
CACNA1CQSSAINVVKILRVLRVLRPLRAINRAKGLK>H<VVQCVFVAIRTIGNIVIVTTLLQFMFACIG1047
CACNA1DQSSAISVVKILRVLRVLRPLRAINRAKGLK>H<VVQCVFVAIRTIGNIMIVTTLLQFMFACIG1053
CACNA1EKGRDIKTIKSLRVLRVLRPLKTIKRLPKLK>A<VFDCVVTSLKNVFNILIVYKLFMFIFAVIA1307
CACNA1FHSSAISVVKILRVLRVLRPLRAINRAKGLK>H<VVQCVFVAIRTIGNIMIVTTLLQFMFACIG1018
CACNA1GGTKILGMLRVLRLLRTLRPLRVISRAQGLK>L<VVETLMSSLKPIGNIVVICCAFFIIFGILG1430
CACNA1HGAKILGVLRVLRLLRTLRPLRVISRAPGLK>L<VVETLISSLRPIGNIVLICCAFFIIFGILG1448
CACNA1IGAKILGVLRVLRLLRTLRPLRVISRAPGLK>L<VVETLISSLKPIGNIVLICCAFFIIFGILG1324
CACNA1SESSAISVVKILRVLRVLRPLRAINRAKGLK>H<VVQCMFVAISTIGNIVLVTTLLQFMFACIG946
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1322 for SCN5A.