Paralogue Annotation for SCN5A residue 792

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 792
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 792

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS843RDravet syndromeHigh6 18930999
SCN1AS843RDravet syndromeHigh6 18930999

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.



SCN5AAEMTFKIIALDPYYYFQQGWNIFDSIIVIL>S<LMELGLSRMS-----NLSVLRSFRLLRVFK817
SCN1AAEMFLKIIAMDPYYYFQEGWNIFDGFIVTL>S<LVELGLANVE-----GLSVLRSFRLLRVFK868
SCN2AAEMFLKIIAMDPYYYFQEGWNIFDGFIVSL>S<LMELGLANVE-----GLSVLRSFRLLRVFK859
SCN3AAEMVLKIIAMDPYYYFQEGWNIFDGIIVSL>S<LMELGLSNVE-----GLSVLRSFRLLRVFK860
SCN4AAEMVLKLIAMDPYEYFQQGWNIFDSIIVTL>S<LVELGLANVQ-----GLSVLRSFRLLRVFK678
SCN7AAEMIFKIIAMHPYGYFQVGWNIFDSMIVFH>G<LIELCLANVA-----GMALLRLFRMLRIFK605
SCN8AAEMFLKLIAMDPYYYFQEGWNIFDGFIVSL>S<LMELSLADVE-----GLSVLRSFRLLRVFK853
SCN9AAEMVLKLIAMDPYEYFQVGWNIFDSLIVTL>S<LVELFLADVE-----GLSVLRSFRLLRVFK833
SCN10AAEMVFKIIAFDPYYYFQKKWNIFDCIIVTV>S<LLELGVAKKG-----SLSVLRSFRLLRVFK765
SCN11AAEMCLKIIALDPYHYFRRGWNIFDSIVALL>S<FADVMNCVLQKR---SWPFLRSFRVLRVFK679
CACNA1ASEMFIKMYGLGTRPYFHSSFNCFDCGVIIG>S<IFEVIWAVIKPGTSFGISVLRALRLLRIFK592
CACNA1BTEMSLKMYGLGPRSYFRSSFNCFDFGVIVG>S<VFEVVWAAIKPGSSFGISVLRALRLLRIFK588
CACNA1CAEMLLKMYSLGLQAYFVSLFNRFDCFVVCG>G<ILETILVETKIMSPLGISVLRCVRLLRIFK629
CACNA1DCEMLVKMYSLGLQAYFVSLFNRFDCFVVCG>G<ITETILVELEIMSPLGISVFRCVRLLRIFK648
CACNA1ELEMSLKMYGMGPRLYFHSSFNCFDFGVTVG>S<IFEVVWAIFRPGTSFGISVLRALRLLRIFK581
CACNA1FVEMLLKLYGLGPSAYVSSFFNRFDCFVVCG>G<ILETTLVEVGAMQPLGISVLRCVRLLRIFK634
CACNA1GLEMLLKLLVYGPFGYIKNPYNIFDGVIVVI>S<VWEIVGQQGG-----GLSVLRTFRLMRVLK843
CACNA1HLEMLLKLLACGPLGYIRNPYNIFDGIIVVI>S<VWEIVGQADG-----GLSVLRTFRLLRVLK893
CACNA1ILEMILKLAAFGLFDYLRNPYNIFDSIIVII>S<IWEIVGQADG-----GLSVLRTFRLLRVLK740
CACNA1STEMLMKMYGLGLRQYFMSIFNRFDCFVVCS>G<ILEILLVESGAMTPLGISVLRCIRLLRIFK537
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 792 for SCN5A.