Paralogue Annotation for SCN5A residue 591

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 591
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 591

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AP610TErythermalgia, primaryMedium1 15955112, 18518989, 22995991, 23895530, 25333069
CACNA1HP618LIdiopathic epilepsy, generalisedMedium1 15048902, 15852375

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-SA---QGQPSPGTSA----P--GHALHGK>K<NSTV------------DCNGVVSLLG-AGD608
SCN1A-----------SNLSQ----T--SRSSRML>A<VFPAN----GKMHSTVDCNGVVSLVG-G-P657
SCN2A-----------SNVSQ----A--SRASRVL>P<ILPMN----GKMHSAVDCNGVVSLVG-G-P660
SCN3A-----------SNVSQ----A--SMSSRMV>P<GLPAN----GKMHSTVDCNGVVSLVG-G-P660
SCN4A------------------------------>-<--PAH----GK-----DCNGSLDTSQ-G--515
SCN7A------------------------------>-<------------------------------
SCN8A------SYSGYSGYSQ----G--SRSSRIF>P<SLRRS----VKRNSTVDCNGVVSLIG-G-P655
SCN9A-----------SNISQ----A--SRSP--->P<MLPVN----GKMHSAVDCNGVVSLVD-G-R634
SCN10A-----------PLPRSPLPQP--SNP---->-<-D---------------------SRH-G-E566
SCN11A------------------------------>-<----------------DCQKKPQLLE-Q--497
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GRSPSEASG-RTV--GS----G--KVYPTVH>T<SPPPETLKEKALVEVAASSGPPTLTSL-NI624
CACNA1HATA-AASL-R-LATGL----GTMN-YPTIL>P<SGVGSGKGSTSPGPKGKWAGGPPGTGGHGP648
CACNA1I------------------------------>-<----------------TLAS----------548
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 591 for SCN5A.