Paralogue Annotation for SCN5A residue 1352

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1352
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1352

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG1018RNight blindness, congenital stationary, incompleteHigh9 12111638, 17949918, 23714322
SCN10AG1299ABrugada syndromeHigh9 25691538

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.



SCN5AVVVNALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFGRCINQTEGDL-P-LNYTIVNN1380
SCN1AVVVNALLGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYHCINTTTGDR---FDIEDVNN1392
SCN2AVVVNALLGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYHCINYTTGEM---FDVSVVNN1382
SCN3AVVVNALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYHCVNMTTGNM---FDISDVNN1380
SCN4AVVVNALLGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYYCINTTTSER---FDISEVNN1205
SCN7AVVVRALIKTTLPTLNVFLVCLMIWLIFSIM>G<VDLFAGRFYECIDPTSGER---FPSSEVMN1103
SCN8AVVVNALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKYHYCFNETSEIR---FEIEDVNN1372
SCN9AVVVNALIGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYECINTTDGSR---FPASQVPN1355
SCN10AVVVDALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFWRCINYTDGEF-SLVPLSIVNN1328
SCN11AVVVNALIGAIPAILNVLLVCLIFWLVFCIL>G<VYFFSGKFGKCINGTDSVI----NYTIITN1222
CACNA1AAVFDCVVNSLKNVFNILIVYMLFMFIFAVV>A<VQLFKGKFFHCTDESKEFEKDCRGKYLLYE1425
CACNA1BAVFDCVVNSLKNVLNILIVYMLFMFIFAVI>A<VQLFKGKFFYCTDESKELERDCRGQYLDYE1331
CACNA1CHVVQCVFVAIRTIGNIVIVTTLLQFMFACI>G<VQLFKGKLYTCSDSSKQTEAECKGNYITYK1077
CACNA1DHVVQCVFVAIRTIGNIMIVTTLLQFMFACI>G<VQLFKGKFYRCTDEAKSNPEECRGLFILYK1083
CACNA1EAVFDCVVTSLKNVFNILIVYKLFMFIFAVI>A<VQLFKGKFFYCTDSSKDTEKECIGNYVDHE1337
CACNA1FHVVQCVFVAIRTIGNIMIVTTLLQFMFACI>G<VQLFKGKFYTCTDEAKHTPQECKGSFLVYP1048
CACNA1GLVVETLMSSLKPIGNIVVICCAFFIIFGIL>G<VQLFKGKFFVCQGED---------TRNITN1451
CACNA1HLVVETLISSLRPIGNIVLICCAFFIIFGIL>G<VQLFKGKFYYCEGPD---------TRNIST1469
CACNA1ILVVETLISSLKPIGNIVLICCAFFIIFGIL>G<VQLFKGKFYHCLGVD---------TRNITN1345
CACNA1SHVVQCMFVAISTIGNIVLVTTLLQFMFACI>G<VQLFKGKFFRCTDLSKMTEEECRGYYYVYK976
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1352 for SCN5A.