Paralogue Annotation for SCN5A residue 1467

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1467
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1467

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1480VMyoclonic-astatic epilepsyHigh9 17347258
SCN4AG1292DMyotonia, non-dystrophicHigh9 22617007
CACNA1AA1508SEpileptic encephalopathy, early onsetMedium9 27476654
SCN2AG1470AAutism spectrum disorderHigh9 26325558

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.



SCN5AQPQWEYNLYMYIYFVIFIIFGSFFTLNLFI>G<VIIDNFNQQKKKLGGQDIFMTEEQKKYY--1495
SCN1AQPKYEESLYMYLYFVIFIIFGSFFTLNLFI>G<VIIDNFNQQKKKFGGQDIFMTEEQKKYY--1508
SCN2AQPKYEDNLYMYLYFVIFIIFGSFFTLNLFI>G<VIIDNFNQQKKKFGGQDIFMTEEQKKYY--1498
SCN3AQPVYEENLYMYLYFVIFIIFGSFFTLNLFI>G<VIIDNFNQQKKKFGGQDIFMTEEQKKYY--1493
SCN4AQPQYEVNLYMYLYFVIFIIFGSFFTLNLFI>G<VIIDNFNQQKKKLGGKDIFMTEEQKKYY--1320
SCN7AQPHFEVNIYMYCYFINFIIFGVFLPLSMLI>T<VIIDNFNKHKIKLGGSNIFITVKQRKQY--1218
SCN8AQPKYEDNIYMYIYFVIFIIFGSFFTLNLFI>G<VIIDNFNQQKKKFGGQDIFMTEEQKKYY--1489
SCN9AQPKYEYSLYMYIYFVVFIIFGSFFTLNLFI>G<VIIDNFNQQKKKLGGQDIFMTEEQKKYY--1471
SCN10AQPKWEDNVYMYLYFVIFIIFGGFFTLNLFV>G<VIIDNFNQQKKKLGGQDIFMTEEQKKYY--1443
SCN11AQPEFESNSLGYIYFVVFIIFGSFFTLNLFI>G<VIIDNFNQQQKKLGGQDIFMTEEQKKYY--1333
CACNA1AGPSPGYRMEMSIFYVVYFVVFPFFFVNIFV>A<LIIITFQEQGDKM----MEEYSLEKNER--1532
CACNA1BGPSPGYRMELSIFYVVYFVVFPFFFVNIFV>A<LIIITFQEQGDKV----MSECSLEKNER--1438
CACNA1CGPIYNYRVEISIFFIIYIIIIAFFMMNIFV>G<FVIVTFQEQGEQE----YKNCELDKNQR--1187
CACNA1DGPIYNHRVEISIFFIIYIIIVAFFMMNIFV>G<FVIVTFQEQGEKE----YKNCELDKNQR--1193
CACNA1EGPSRSNRMEMSIFYVVYFVVFPFFFVNIFV>A<LIIITFQEQGDKM----MEECSLEKNER--1444
CACNA1FGPIYNYRVEISVFFIVYIIIIAFFMMNIFV>G<FVIITFRAQGEQE----YQNCELDKNQR--1158
CACNA1GQPIMNHNPWMLLYFISFLLIVAFFVLNMFV>G<VVVENFHKCRQHQEEEEARRREEKRLRRLE1564
CACNA1HQPVQNHNPWMLLYFISFLLIVSFFVLNMFV>G<VVVENFHKCRQHQEAEEARRREEK------1576
CACNA1IQPVTNHNPWMLLYFISFLLIVSFFVLNMFV>G<VVVENFHKCRQHQEAEEARRREEK------1452
CACNA1SGPIYNNRVEMAIFFIIYIILIAFFMMNIFV>G<FVIVTFQEQGETE----YKNCELDKNQR--1086
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1467 for SCN5A.