Paralogue Annotation for SCN5A residue 608

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 608
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 608

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP657LDravet syndromeLow1 26096185

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.



SCN5AKNSTV------------DCNGVVSLLG-AG>D<----PEAT-SPGSHLLRP------------621
SCN1AAVFPAN----GKMHSTVDCNGVVSLVG-G->P<----SVPT-SPVGQLLPE------------670
SCN2APILPMN----GKMHSAVDCNGVVSLVG-G->P<----STLT-SA-GQLLPE------------672
SCN3APGLPAN----GKMHSTVDCNGVVSLVG-G->P<----SALT-SPTGQLPPE------------673
SCN4A---PAH----GK-----DCNGSLDTSQ-G->-<------------------------------515
SCN7A------------------------------>-<------------------------------
SCN8APSLRRS----VKRNSTVDCNGVVSLIG-G->P<----GSHI---GGRLLPE------------666
SCN9APMLPVN----GKMHSAVDCNGVVSLVD-G->R<----SALM-LPNGQLLPE------------647
SCN10A--D---------------------SRH-G->E<----DEHQPPPT-SELAP------------579
SCN11A-----------------DCQKKPQLLE-Q->-<----------------T-------------498
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GTSPPPETLKEKALVEVAASSGPPTLTSL-N>I<----PPGPY-SSMHKLLETQSTGACQS---646
CACNA1HPSGVGSGKGSTSPGPKGKWAGGPPGTGGHG>P<LSLNSPDPY-EKIPHVVGEHGLGQAPGHLS677
CACNA1I-----------------TLAS--------->-<------------------------------548
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D608Hc.1822G>C Putative BenignSIFT:
Polyphen:
p.D608Nc.1822G>A Putative BenignSIFT:
Polyphen: