Paralogue Annotation for SCN5A residue 847

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 847
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 847

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AA863PErythermalgia, primaryHigh9 17135418

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.



SCN5AKLAKSWPTLNTLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKNYSEL-RDS----D872
SCN1AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKDC-VCK----I923
SCN2AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I914
SCN3AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I915
SCN4AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I733
SCN7AKLGKYWPTFQILMWSLSNSWVALKDLVLLL>F<TFIFFSAAFGMKLFGKNYEEF-VCH----I660
SCN8AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I908
SCN9AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I888
SCN10AKLAKSWPTLNTLIKIIGNSVGALGNLTIIL>A<IIVFVFALVGKQLLGENYRNN-RKN----I820
SCN11AKLAKSWPTLNTLIKIIGNSVGALGSLTVVL>V<IVIFIFSVVGMQLFGRSFNSQ-KSPKLCNP738
CACNA1AKVTKYWASLRNLVVSLLNSMKSIISLLFLL>F<LFIVVFALLGMQLFGGQFNFD-E-------644
CACNA1BKVTKYWSSLRNLVVSLLNSMKSIISLLFLL>F<LFIVVFALLGMQLFGGQFNFQ-D-------640
CACNA1CKITRYWNSLSNLVASLLNSVRSIASLLLLL>F<LFIIIFSLLGMQLFGGKFNFD-E-------681
CACNA1DKVTRHWTSLSNLVASLLNSMKSIASLLLLL>F<LFIIIFSLLGMQLFGGKFNFD-E-------700
CACNA1EKITKYWASLRNLVVSLMSSMKSIISLLFLL>F<LFIVVFALLGMQLFGGRFNFN-D-------633
CACNA1FKVTRHWASLSNLVASLLNSMKSIASLLLLL>F<LFIIIFSLLGMQLFGGKFNFD-Q-------686
CACNA1GKLVRFLPALQRQLVVLMKTMDNVATFCMLL>M<LFIFIFSILGMHLFGCKFASER--------895
CACNA1HKLVRFLPALRRQLVVLVKTMDNVATFCTLL>M<LFIFIFSILGMHLFGCKFSLKTD-------946
CACNA1IKLVRFMPALRRQLVVLMKTMDNVATFCMLL>M<LFIFIFSILGMHIFGCKFSLRTD-------793
CACNA1SKITKYWTSLSNLVASLLNSIRSIASLLLLL>F<LFIVIFALLGMQLFGGRYDFE-D-------589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 847 for SCN5A.