Paralogue Annotation for SCN5A residue 1305

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1305
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1305

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1318RMyoclonic epilepsy of infancyHigh9 22147323

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.



SCN5ADVSLVSLVAN-T----LGFAEMGPIKSLRT>L<RALRPLRALSRFEGMRVVVNALVGAIPSIM1335
SCN1ADVSLVSLTAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALLGAIPSIM1348
SCN2ADVSLVSLTAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALLGAIPSIM1338
SCN3ADVSLVSLVAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALVGAIPSIM1336
SCN4ADVSIISLVAN-W----LGYSELGPIKSLRT>L<RALRPLRALSRFEGMRVVVNALLGAIPSIM1161
SCN7AIVFCLSLIGK-T----RE--E---LKPLIS>M<KFLRPLRVLSQFERMKVVVRALIKTTLPTL1059
SCN8AAVSLVSLIAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALVGAIPSIM1328
SCN9ADVSLVTLVAN-T----LGYSDLGPIKSLRT>L<RALRPLRALSRFEGMRVVVNALIGAIPSIM1311
SCN10ANISLISLTAK-I----LEYSEVAPIKALRT>L<RALRPLRALSRFEGMRVVVDALVGAIPSIM1282
SCN11AIVSVTTLI---------N---LMELKSFRT>L<RALRPLRALSQFEGMKVVVNALIGAIPAIL1179
CACNA1ASGALVAFAFTGN----SKGKDINTIKSLRV>L<RVLRPLKTIKRLPKLKAVFDCVVNSLKNVF1378
CACNA1BSGALVAFAFS-G----SKGKDINTIKSLRV>L<RVLRPLKTIKRLPKLKAVFDCVVNSLKNVL1284
CACNA1CSVSLISF----G----IQSSAINVVKILRV>L<RVLRPLRAINRAKGLKHVVQCVFVAIRTIG1030
CACNA1DGVSLVSF----G----IQSSAISVVKILRV>L<RVLRPLRAINRAKGLKHVVQCVFVAIRTIG1036
CACNA1EVGALVAFALANA-LGTNKGRDIKTIKSLRV>L<RVLRPLKTIKRLPKLKAVFDCVVTSLKNVF1290
CACNA1FSVSLISF----G----IHSSAISVVKILRV>L<RVLRPLRAINRAKGLKHVVQCVFVAIRTIG1001
CACNA1GLISVIDILVS-MVSD-SGTKILGMLRVLRL>L<RTLRPLRVISRAQGLKLVVETLMSSLKPIG1413
CACNA1HLVSLVDIVVA-MASA-GGAKILGVLRVLRL>L<RTLRPLRVISRAPGLKLVVETLISSLRPIG1431
CACNA1IFVSIIDIVVS-LASA-GGAKILGVLRVLRL>L<RTLRPLRVISRAPGLKLVVETLISSLKPIG1307
CACNA1SAVSLISM----G----LESSAISVVKILRV>L<RVLRPLRAINRAKGLKHVVQCMFVAISTIG929
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1305 for SCN5A.