Paralogue Annotation for SCN5A residue 761

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 761
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 761

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT812RMyoclonic epilepsy of infancyHigh9 17054684, 19585586
SCN1AT812IDravet syndrome B ?High9 21248271

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.



SCN5ATLFMALEHYNMTSEFEEMLQVGNLVFTGIF>T<AEMTFKIIALDPYYYFQQGWNIFDSIIVIL791
SCN1ATLFMAMEHYPMTDHFNNVLTVGNLVFTGIF>T<AEMFLKIIAMDPYYYFQEGWNIFDGFIVTL842
SCN2ATLFMAMEHYPMTEQFSSVLSVGNLVFTGIF>T<AEMFLKIIAMDPYYYFQEGWNIFDGFIVSL833
SCN3ATLFMAMEHYPMTEQFSSVLTVGNLVFTGIF>T<AEMVLKIIAMDPYYYFQEGWNIFDGIIVSL834
SCN4ATLFMAMEHYPMTEHFDNVLTVGNLVFTGIF>T<AEMVLKLIAMDPYEYFQQGWNIFDSIIVTL652
SCN7AVCFLTLEHYPMSKQTNTLLNIGNLVFIGIF>T<AEMIFKIIAMHPYGYFQVGWNIFDSMIVFH579
SCN8ATLFMAMEHHPMTPQFEHVLAVGNLVFTGIF>T<AEMFLKLIAMDPYYYFQEGWNIFDGFIVSL827
SCN9ATLFMAMEHHPMTEEFKNVLAIGNLVFTGIF>A<AEMVLKLIAMDPYEYFQVGWNIFDSLIVTL807
SCN10ATIFMAMEHHGMSPTFEAMLQIGNIVFTIFF>T<AEMVFKIIAFDPYYYFQKKWNIFDCIIVTV739
SCN11ATVFLAMEHHKMEASFEKMLNIGNLVFTSIF>I<AEMCLKIIALDPYHYFRRGWNIFDSIVALL651
CACNA1ATLCVAIVHYNQPEWLSDFLYYAEFIFLGLF>M<SEMFIKMYGLGTRPYFHSSFNCFDCGVIIG561
CACNA1BTLCVAMVHYNQPRRLTTTLYFAEFVFLGLF>L<TEMSLKMYGLGPRSYFRSSFNCFDFGVIVG557
CACNA1CTLTIASEHYNQPNWLTEVQDTANKALLALF>T<AEMLLKMYSLGLQAYFVSLFNRFDCFVVCG598
CACNA1DTLTISSEHYNQPDWLTQIQDIANKVLLALF>T<CEMLVKMYSLGLQAYFVSLFNRFDCFVVCG617
CACNA1ETACVAIVHHNQPQWLTHLLYYAEFLFLGLF>L<LEMSLKMYGMGPRLYFHSSFNCFDFGVTVG550
CACNA1FTLTIASEHHGQPVWLTQIQEYANKVLLCLF>T<VEMLLKLYGLGPSAYVSSFFNRFDCFVVCG603
CACNA1GTLSMGIEYHEQPEELTNALEISNIVFTSLF>A<LEMLLKLLVYGPFGYIKNPYNIFDGVIVVI817
CACNA1HTLSMGVEYHEQPEELTNALEISNIVFTSMF>A<LEMLLKLLACGPLGYIRNPYNIFDGIIVVI867
CACNA1ITVSMGIEHHEQPEELTNILEICNVVFTSMF>A<LEMILKLAAFGLFDYLRNPYNIFDSIIVII714
CACNA1STLSIASEHHNQPLWLTRLQDIANRVLLSLF>T<TEMLMKMYGLGLRQYFMSIFNRFDCFVVCS506
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 761 for SCN5A.