Paralogue Annotation for SCN5A residue 566

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 566
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 566

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1GA570VMyoclonic epilepsy, juvenileLow2 17397049

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.



SCN5A------DFADDENSTAGESESHHTSLLVPW>P<L--RRT-SA---QGQPSPGTSA----P--G584
SCN1A------DFADDEHSTFEDNESRRDSLFVPR>R<HGERRN-----------SNLSQ----T--S626
SCN2A------DFADDEHSTFEDNDSRRDSLFVPH>R<HGERRH-----------SNVSQ----A--S629
SCN3A------DFADDEHSTFEDSESRRDSLFVPH>R<HGERRN-----------SNVSQ----A--S629
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------EFADDEHSTVEESEGRRDSLFIPI>R<ARERRS------SYSGYSGYSQ----G--S624
SCN9A------EFADDEHSIFGDNESRRGSLFVPH>R<PQERRS-----------SNISQ----A--S606
SCN10A------GVTDDG-VFPGDHESHRGSLLLGG>G<AGQQG------------PLPRSPLPQP--S558
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GPALSGAPPGGAESVHSFYHADCHLEPVRCQ>A<PP---PRSPSEASG-RTV--GS----G--K588
CACNA1HPSPGRGPPD-AESVHSIYHADCHIEGPQER>A<RVAHAAATA-AASL-R-LATGL----GTMN612
CACNA1I------SPGNDHSGRELCPQHSPLDATPHT>L<VQPIPA------------------------544
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 566 for SCN5A.