Paralogue Annotation for SCN5A residue 1300

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1300
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1300

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AK1126INormokalaemic periodic paralysis with involuntary High9 25193600
SCN1AK1313IDravet syndromeHigh9 25459968

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.



SCN5ADFLIVDVSLVSLVAN-T----LGFAEMGPI>K<SLRTLRALRPLRALSRFEGMRVVVNALVGA1330
SCN1ADFLIVDVSLVSLTAN-A----LGYSELGAI>K<SLRTLRALRPLRALSRFEGMRVVVNALLGA1343
SCN2ADFLIVDVSLVSLTAN-A----LGYSELGAI>K<SLRTLRALRPLRALSRFEGMRVVVNALLGA1333
SCN3ADFLIVDVSLVSLVAN-A----LGYSELGAI>K<SLRTLRALRPLRALSRFEGMRVVVNALVGA1331
SCN4ADFLIVDVSIISLVAN-W----LGYSELGPI>K<SLRTLRALRPLRALSRFEGMRVVVNALLGA1156
SCN7ADFVVVIVFCLSLIGK-T----RE--E---L>K<PLISMKFLRPLRVLSQFERMKVVVRALIKT1054
SCN8ADFLIVAVSLVSLIAN-A----LGYSELGAI>K<SLRTLRALRPLRALSRFEGMRVVVNALVGA1323
SCN9ADFLIVDVSLVTLVAN-T----LGYSDLGPI>K<SLRTLRALRPLRALSRFEGMRVVVNALIGA1306
SCN10ADFLIVNISLISLTAK-I----LEYSEVAPI>K<ALRTLRALRPLRALSRFEGMRVVVDALVGA1277
SCN11ADFIIVIVSVTTLI---------N---LMEL>K<SFRTLRALRPLRALSQFEGMKVVVNALIGA1174
CACNA1ADFIVVSGALVAFAFTGN----SKGKDINTI>K<SLRVLRVLRPLKTIKRLPKLKAVFDCVVNS1373
CACNA1BDFIVVSGALVAFAFS-G----SKGKDINTI>K<SLRVLRVLRPLKTIKRLPKLKAVFDCVVNS1279
CACNA1CDLLVVSVSLISF----G----IQSSAINVV>K<ILRVLRVLRPLRAINRAKGLKHVVQCVFVA1025
CACNA1DDMLVVGVSLVSF----G----IQSSAISVV>K<ILRVLRVLRPLRAINRAKGLKHVVQCVFVA1031
CACNA1EDFVVVVGALVAFALANA-LGTNKGRDIKTI>K<SLRVLRVLRPLKTIKRLPKLKAVFDCVVTS1285
CACNA1FDLLVVSVSLISF----G----IHSSAISVV>K<ILRVLRVLRPLRAINRAKGLKHVVQCVFVA996
CACNA1GDGLLVLISVIDILVS-MVSD-SGTKILGML>R<VLRLLRTLRPLRVISRAQGLKLVVETLMSS1408
CACNA1HDGLLVLVSLVDIVVA-MASA-GGAKILGVL>R<VLRLLRTLRPLRVISRAPGLKLVVETLISS1426
CACNA1IDGFLVFVSIIDIVVS-LASA-GGAKILGVL>R<VLRLLRTLRPLRVISRAPGLKLVVETLISS1302
CACNA1SDLLVVAVSLISM----G----LESSAISVV>K<ILRVLRVLRPLRAINRAKGLKHVVQCMFVA924
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1300 for SCN5A.