Paralogue Annotation for SCN5A residue 856

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 856
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 856

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AV872GErythermalgia, primaryHigh9 19162012
SCN4AV717AMyotonia, non-dystrophicHigh9 23771340
SCN1AV907FFocal epilepsyHigh9 27029629

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.



SCN5ANTLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKNYSEL-RDS----D-SG---LLP877
SCN1ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKDC-VCK----I-AS-DCQLP930
SCN2ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-SN-DCELP921
SCN3ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-ND-DCTLP922
SCN4ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-AL-DCNLP740
SCN7AQILMWSLSNSWVALKDLVLLLFTFIFFSAA>F<GMKLFGKNYEEF-VCH----I-DK-DCQLP667
SCN8ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-NQ-DCELP915
SCN9ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-ND-DCTLP895
SCN10ANTLIKIIGNSVGALGNLTIILAIIVFVFAL>V<GKQLLGENYRNN-RKN----I-SAPHEDWP828
SCN11ANTLIKIIGNSVGALGSLTVVLVIVIFIFSV>V<GMQLFGRSFNSQ-KSPKLCNPTGPTVSCLR747
CACNA1ARNLVVSLLNSMKSIISLLFLLFLFIVVFAL>L<GMQLFGGQFNFD-E------------G-TP647
CACNA1BRNLVVSLLNSMKSIISLLFLLFLFIVVFAL>L<GMQLFGGQFNFQ-D------------E-TP643
CACNA1CSNLVASLLNSVRSIASLLLLLFLFIIIFSL>L<GMQLFGGKFNFD-E------------MQTR685
CACNA1DSNLVASLLNSMKSIASLLLLLFLFIIIFSL>L<GMQLFGGKFNFD-E------------TQTK704
CACNA1ERNLVVSLMSSMKSIISLLFLLFLFIVVFAL>L<GMQLFGGRFNFN-D------------G-TP636
CACNA1FSNLVASLLNSMKSIASLLLLLFLFIIIFSL>L<GMQLFGGKFNFD-Q------------THTK690
CACNA1GQRQLVVLMKTMDNVATFCMLLMLFIFIFSI>L<GMHLFGCKFASER---------DG-DTLPD902
CACNA1HRRQLVVLVKTMDNVATFCTLLMLFIFIFSI>L<GMHLFGCKFSLKTD--------TG-DTVPD953
CACNA1IRRQLVVLMKTMDNVATFCMLLMLFIFIFSI>L<GMHIFGCKFSLRTD--------TG-DTVPD800
CACNA1SSNLVASLLNSIRSIASLLLLLFLFIVIFAL>L<GMQLFGGRYDFE-D------------TEVR593
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 856 for SCN5A.