Paralogue Annotation for SCN5A residue 588

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 588
Reference Amino Acid: H - Histidine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 588

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR630WGeneralized epilepsy with febrile seizures plusLow2 24679980

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.



SCN5ARRT-SA---QGQPSPGTSA----P--GHAL>H<GKKNSTV------------DCNGVVSLLG-605
SCN1ARRN-----------SNLSQ----T--SRSS>R<MLAVFPAN----GKMHSTVDCNGVVSLVG-655
SCN2ARRH-----------SNVSQ----A--SRAS>R<VLPILPMN----GKMHSAVDCNGVVSLVG-658
SCN3ARRN-----------SNVSQ----A--SMSS>R<MVPGLPAN----GKMHSTVDCNGVVSLVG-658
SCN4A------------------------------>-<-----PAH----GK-----DCNGSLDTSQ-514
SCN7A------------------------------>-<------------------------------
SCN8ARRS------SYSGYSGYSQ----G--SRSS>R<IFPSLRRS----VKRNSTVDCNGVVSLIG-653
SCN9ARRS-----------SNISQ----A--SRSP>-<--PMLPVN----GKMHSAVDCNGVVSLVD-632
SCN10AQG------------PLPRSPLPQP--SNP->-<----D---------------------SRH-564
SCN11A------------------------------>-<-------------------DCQKKPQLLE-496
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1G--PRSPSEASG-RTV--GS----G--KVYP>T<VHTSPPPETLKEKALVEVAASSGPPTLTSL622
CACNA1HHAAATA-AASL-R-LATGL----GTMN-YP>T<ILPSGVGSGKGSTSPGPKGKWAGGPPGTGG645
CACNA1IIPA--------------------------->-<-------------------TLAS-------548
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H588Nc.1762C>A Putative BenignSIFT:
Polyphen: