Paralogue Annotation for SCN5A residue 1310

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1310
Reference Amino Acid: P - Proline
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1310

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1323RDravet syndromeHigh9 21868258
CACNA1AP1353LHypotonia and developmental delayHigh9 26739101, 26944241, 26739101

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.



SCN5ASLVAN-T----LGFAEMGPIKSLRTLRALR>P<LRALSRFEGMRVVVNALVGAIPSIMNVLLV1340
SCN1ASLTAN-A----LGYSELGAIKSLRTLRALR>P<LRALSRFEGMRVVVNALLGAIPSIMNVLLV1353
SCN2ASLTAN-A----LGYSELGAIKSLRTLRALR>P<LRALSRFEGMRVVVNALLGAIPSIMNVLLV1343
SCN3ASLVAN-A----LGYSELGAIKSLRTLRALR>P<LRALSRFEGMRVVVNALVGAIPSIMNVLLV1341
SCN4ASLVAN-W----LGYSELGPIKSLRTLRALR>P<LRALSRFEGMRVVVNALLGAIPSIMNVLLV1166
SCN7ASLIGK-T----RE--E---LKPLISMKFLR>P<LRVLSQFERMKVVVRALIKTTLPTLNVFLV1064
SCN8ASLIAN-A----LGYSELGAIKSLRTLRALR>P<LRALSRFEGMRVVVNALVGAIPSIMNVLLV1333
SCN9ATLVAN-T----LGYSDLGPIKSLRTLRALR>P<LRALSRFEGMRVVVNALIGAIPSIMNVLLV1316
SCN10ASLTAK-I----LEYSEVAPIKALRTLRALR>P<LRALSRFEGMRVVVDALVGAIPSIMNVLLV1287
SCN11ATLI---------N---LMELKSFRTLRALR>P<LRALSQFEGMKVVVNALIGAIPAILNVLLV1184
CACNA1AAFAFTGN----SKGKDINTIKSLRVLRVLR>P<LKTIKRLPKLKAVFDCVVNSLKNVFNILIV1383
CACNA1BAFAFS-G----SKGKDINTIKSLRVLRVLR>P<LKTIKRLPKLKAVFDCVVNSLKNVLNILIV1289
CACNA1CSF----G----IQSSAINVVKILRVLRVLR>P<LRAINRAKGLKHVVQCVFVAIRTIGNIVIV1035
CACNA1DSF----G----IQSSAISVVKILRVLRVLR>P<LRAINRAKGLKHVVQCVFVAIRTIGNIMIV1041
CACNA1EAFALANA-LGTNKGRDIKTIKSLRVLRVLR>P<LKTIKRLPKLKAVFDCVVTSLKNVFNILIV1295
CACNA1FSF----G----IHSSAISVVKILRVLRVLR>P<LRAINRAKGLKHVVQCVFVAIRTIGNIMIV1006
CACNA1GDILVS-MVSD-SGTKILGMLRVLRLLRTLR>P<LRVISRAQGLKLVVETLMSSLKPIGNIVVI1418
CACNA1HDIVVA-MASA-GGAKILGVLRVLRLLRTLR>P<LRVISRAPGLKLVVETLISSLRPIGNIVLI1436
CACNA1IDIVVS-LASA-GGAKILGVLRVLRLLRTLR>P<LRVISRAPGLKLVVETLISSLKPIGNIVLI1312
CACNA1SSM----G----LESSAISVVKILRVLRVLR>P<LRAINRAKGLKHVVQCMFVAISTIGNIVLV934
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1310 for SCN5A.