Paralogue Annotation for SCN5A residue 1337

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1337
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1337

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1350GDravet syndrome C ?High9 21248271

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.



SCN5AALRPLRALSRFEGMRVVVNALVGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKFGRCINQT1367
SCN1AALRPLRALSRFEGMRVVVNALLGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKFYHCINTT1380
SCN2AALRPLRALSRFEGMRVVVNALLGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKFYHCINYT1370
SCN3AALRPLRALSRFEGMRVVVNALVGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKFYHCVNMT1368
SCN4AALRPLRALSRFEGMRVVVNALLGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKFYYCINTT1193
SCN7AFLRPLRVLSQFERMKVVVRALIKTTLPTLN>V<FLVCLMIWLIFSIMGVDLFAGRFYECIDPT1091
SCN8AALRPLRALSRFEGMRVVVNALVGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKYHYCFNET1360
SCN9AALRPLRALSRFEGMRVVVNALIGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKFYECINTT1343
SCN10AALRPLRALSRFEGMRVVVDALVGAIPSIMN>V<LLVCLIFWLIFSIMGVNLFAGKFWRCINYT1314
SCN11AALRPLRALSQFEGMKVVVNALIGAIPAILN>V<LLVCLIFWLVFCILGVYFFSGKFGKCINGT1211
CACNA1AVLRPLKTIKRLPKLKAVFDCVVNSLKNVFN>I<LIVYMLFMFIFAVVAVQLFKGKFFHCTDES1410
CACNA1BVLRPLKTIKRLPKLKAVFDCVVNSLKNVLN>I<LIVYMLFMFIFAVIAVQLFKGKFFYCTDES1316
CACNA1CVLRPLRAINRAKGLKHVVQCVFVAIRTIGN>I<VIVTTLLQFMFACIGVQLFKGKLYTCSDSS1062
CACNA1DVLRPLRAINRAKGLKHVVQCVFVAIRTIGN>I<MIVTTLLQFMFACIGVQLFKGKFYRCTDEA1068
CACNA1EVLRPLKTIKRLPKLKAVFDCVVTSLKNVFN>I<LIVYKLFMFIFAVIAVQLFKGKFFYCTDSS1322
CACNA1FVLRPLRAINRAKGLKHVVQCVFVAIRTIGN>I<MIVTTLLQFMFACIGVQLFKGKFYTCTDEA1033
CACNA1GTLRPLRVISRAQGLKLVVETLMSSLKPIGN>I<VVICCAFFIIFGILGVQLFKGKFFVCQGED1445
CACNA1HTLRPLRVISRAPGLKLVVETLISSLRPIGN>I<VLICCAFFIIFGILGVQLFKGKFYYCEGPD1463
CACNA1ITLRPLRVISRAPGLKLVVETLISSLKPIGN>I<VLICCAFFIIFGILGVQLFKGKFYHCLGVD1339
CACNA1SVLRPLRAINRAKGLKHVVQCMFVAISTIGN>I<VLVTTLLQFMFACIGVQLFKGKFFRCTDLS961
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1337 for SCN5A.