Paralogue Annotation for SCN5A residue 1307

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1307
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1307

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1320VDravet syndrome B ?High9 21248271
CACNA1AV1350LParoxysmal tonic upward gazeMedium9 25596066

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.



SCN5ASLVSLVAN-T----LGFAEMGPIKSLRTLR>A<LRPLRALSRFEGMRVVVNALVGAIPSIMNV1337
SCN1ASLVSLTAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALLGAIPSIMNV1350
SCN2ASLVSLTAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALLGAIPSIMNV1340
SCN3ASLVSLVAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALVGAIPSIMNV1338
SCN4ASIISLVAN-W----LGYSELGPIKSLRTLR>A<LRPLRALSRFEGMRVVVNALLGAIPSIMNV1163
SCN7AFCLSLIGK-T----RE--E---LKPLISMK>F<LRPLRVLSQFERMKVVVRALIKTTLPTLNV1061
SCN8ASLVSLIAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALVGAIPSIMNV1330
SCN9ASLVTLVAN-T----LGYSDLGPIKSLRTLR>A<LRPLRALSRFEGMRVVVNALIGAIPSIMNV1313
SCN10ASLISLTAK-I----LEYSEVAPIKALRTLR>A<LRPLRALSRFEGMRVVVDALVGAIPSIMNV1284
SCN11ASVTTLI---------N---LMELKSFRTLR>A<LRPLRALSQFEGMKVVVNALIGAIPAILNV1181
CACNA1AALVAFAFTGN----SKGKDINTIKSLRVLR>V<LRPLKTIKRLPKLKAVFDCVVNSLKNVFNI1380
CACNA1BALVAFAFS-G----SKGKDINTIKSLRVLR>V<LRPLKTIKRLPKLKAVFDCVVNSLKNVLNI1286
CACNA1CSLISF----G----IQSSAINVVKILRVLR>V<LRPLRAINRAKGLKHVVQCVFVAIRTIGNI1032
CACNA1DSLVSF----G----IQSSAISVVKILRVLR>V<LRPLRAINRAKGLKHVVQCVFVAIRTIGNI1038
CACNA1EALVAFALANA-LGTNKGRDIKTIKSLRVLR>V<LRPLKTIKRLPKLKAVFDCVVTSLKNVFNI1292
CACNA1FSLISF----G----IHSSAISVVKILRVLR>V<LRPLRAINRAKGLKHVVQCVFVAIRTIGNI1003
CACNA1GSVIDILVS-MVSD-SGTKILGMLRVLRLLR>T<LRPLRVISRAQGLKLVVETLMSSLKPIGNI1415
CACNA1HSLVDIVVA-MASA-GGAKILGVLRVLRLLR>T<LRPLRVISRAPGLKLVVETLISSLRPIGNI1433
CACNA1ISIIDIVVS-LASA-GGAKILGVLRVLRLLR>T<LRPLRVISRAPGLKLVVETLISSLKPIGNI1309
CACNA1SSLISM----G----LESSAISVVKILRVLR>V<LRPLRAINRAKGLKHVVQCMFVAISTIGNI931
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1307 for SCN5A.