Paralogue Annotation for SCN5A residue 1807

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1807
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1807

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AQ1633EMyotonia, potassium-aggravatedHigh9 19347921
SCN8AQ1801EEpileptic encephalopathyHigh9 25568300

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.



SCN5AVATEESTEPLSEDDFDMFYEIWEKFDPEAT>Q<FIEYSVLSDFADALSEPLR--IAK--PNQI1833
SCN1AVATEESAEPLSEDDFEMFYEVWEKFDPDAT>Q<FMEFEKLSQFAAALEPPLN--LPQ--PNKL1847
SCN2AVATEESAEPLSEDDFEMFYEVWEKFDPDAT>Q<FIEFAKLSDFADALDPPLL--IAK--PNKV1837
SCN3AVATEESAEPLSEDDFEMFYEVWEKFDPDAT>Q<FIEFSKLSDFAAALDPPLL--IAK--PNKV1832
SCN4AVATEESSEPLGEDDFEMFYETWEKFDPDAT>Q<FIAYSRLSDFVDTLQEPLR--IAK--PNKI1659
SCN7AIASKKKNKTLSEDDFRKFFQVWKRFDPDRT>Q<YIDSSKLSDFAAALDPPLF--MAK--PNKG1557
SCN8AVATEESADPLSEDDFETFYEIWEKFDPDAT>Q<FIEYCKLADFADALEHPLR--VPK--PNTI1827
SCN9AVATEESTEPLSEDDFEMFYEVWEKFDPDAT>Q<FIEFSKLSDFAAALDPPLL--IAK--PNKV1810
SCN10AVATEESTEPLSEDDFDMFYETWEKFDPEAT>Q<FITFSALSDFADTLSGPLR--IPK--PNRN1783
SCN11ATATEESEDPLGEDDFDIFYEVWEKFDPEAT>Q<FIKYSALSDFADALPEPLR--VAK--PNKY1665
CACNA1AYLTRDSSI-LGPHHLDEYVRVWAEYDPAAC>G<RIHYKDMYSLLRVISPPLG--LGKKCPHRV1873
CACNA1BYLTRDSSI-LGPHHLDEFIRVWAEYDPAAC>G<RISYNDMFEMLKHMSPPLG--LGKKCPARV1771
CACNA1CYLTRDWSI-LGPHHLDEFKRIWAEYDPEAK>G<RIKHLDVVTLLRRIQPPLG--FGKLCPHRV1538
CACNA1DYLTRDWSI-LGPHHLDEFKRIWSEYDPEAK>G<RIKHLDVVTLLRRIQPPLG--FGKLCPHRV1546
CACNA1EYLTRDSSI-LGPHHLDEFVRVWAEYDRAAC>G<RIHYTEMYEMLTLMSPPLG--LGKRCPSKV1785
CACNA1FYLTRDWSI-LGPHHLDEFKRIWSEYDPGAK>G<RIKHLDVVALLRRIQPPLG--FGKLCPHRV1503
CACNA1GESNKEAKE---EAELEAELELEMKT-LSPQ>P<HSPLGSPF-LWPGVEGPDS--PDSPKPGAL1909
CACNA1HESNKEARE---DAELDAEIELEMAQGPGSA>R<RVDADRP---------PLP--QESPG--AR1909
CACNA1IDSNKEAQE---DAEMDAELELEMAHGLGPG>P<RLPTGSPGAPGR---GPGGAGGGGDT--EG1787
CACNA1SYLTRDWSI-LGPHHLDEFKAIWAEYDPEAK>G<RIKHLDVVTLLRRIQPPLG--FGKFCPHRV1443
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1807 for SCN5A.