Paralogue Annotation for SCN5A residue 780

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 780
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 780

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AG822SNeurodevelopmental disorderHigh9 27087320

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.



SCN5AQVGNLVFTGIFTAEMTFKIIALDPYYYFQQ>G<WNIFDSIIVILSLMELGLSRMS-----NLS805
SCN1ATVGNLVFTGIFTAEMFLKIIAMDPYYYFQE>G<WNIFDGFIVTLSLVELGLANVE-----GLS856
SCN2ASVGNLVFTGIFTAEMFLKIIAMDPYYYFQE>G<WNIFDGFIVSLSLMELGLANVE-----GLS847
SCN3ATVGNLVFTGIFTAEMVLKIIAMDPYYYFQE>G<WNIFDGIIVSLSLMELGLSNVE-----GLS848
SCN4ATVGNLVFTGIFTAEMVLKLIAMDPYEYFQQ>G<WNIFDSIIVTLSLVELGLANVQ-----GLS666
SCN7ANIGNLVFIGIFTAEMIFKIIAMHPYGYFQV>G<WNIFDSMIVFHGLIELCLANVA-----GMA593
SCN8AAVGNLVFTGIFTAEMFLKLIAMDPYYYFQE>G<WNIFDGFIVSLSLMELSLADVE-----GLS841
SCN9AAIGNLVFTGIFAAEMVLKLIAMDPYEYFQV>G<WNIFDSLIVTLSLVELFLADVE-----GLS821
SCN10AQIGNIVFTIFFTAEMVFKIIAFDPYYYFQK>K<WNIFDCIIVTVSLLELGVAKKG-----SLS753
SCN11ANIGNLVFTSIFIAEMCLKIIALDPYHYFRR>G<WNIFDSIVALLSFADVMNCVLQKR---SWP667
CACNA1AYYAEFIFLGLFMSEMFIKMYGLGTRPYFHS>S<FNCFDCGVIIGSIFEVIWAVIKPGTSFGIS580
CACNA1BYFAEFVFLGLFLTEMSLKMYGLGPRSYFRS>S<FNCFDFGVIVGSVFEVVWAAIKPGSSFGIS576
CACNA1CDTANKALLALFTAEMLLKMYSLGLQAYFVS>L<FNRFDCFVVCGGILETILVETKIMSPLGIS617
CACNA1DDIANKVLLALFTCEMLVKMYSLGLQAYFVS>L<FNRFDCFVVCGGITETILVELEIMSPLGIS636
CACNA1EYYAEFLFLGLFLLEMSLKMYGMGPRLYFHS>S<FNCFDFGVTVGSIFEVVWAIFRPGTSFGIS569
CACNA1FEYANKVLLCLFTVEMLLKLYGLGPSAYVSS>F<FNRFDCFVVCGGILETTLVEVGAMQPLGIS622
CACNA1GEISNIVFTSLFALEMLLKLLVYGPFGYIKN>P<YNIFDGVIVVISVWEIVGQQGG-----GLS831
CACNA1HEISNIVFTSMFALEMLLKLLACGPLGYIRN>P<YNIFDGIIVVISVWEIVGQADG-----GLS881
CACNA1IEICNVVFTSMFALEMILKLAAFGLFDYLRN>P<YNIFDSIIVIISIWEIVGQADG-----GLS728
CACNA1SDIANRVLLSLFTTEMLMKMYGLGLRQYFMS>I<FNRFDCFVVCSGILEILLVESGAMTPLGIS525
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 780 for SCN5A.