Paralogue Annotation for SCN5A residue 775

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 775
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 775

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CA582DLong QT syndromeMedium9 24728418, 24728418

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.



SCN5AFEEMLQVGNLVFTGIFTAEMTFKIIALDPY>Y<YFQQGWNIFDSIIVILSLMELGLSRMS---802
SCN1AFNNVLTVGNLVFTGIFTAEMFLKIIAMDPY>Y<YFQEGWNIFDGFIVTLSLVELGLANVE---853
SCN2AFSSVLSVGNLVFTGIFTAEMFLKIIAMDPY>Y<YFQEGWNIFDGFIVSLSLMELGLANVE---844
SCN3AFSSVLTVGNLVFTGIFTAEMVLKIIAMDPY>Y<YFQEGWNIFDGIIVSLSLMELGLSNVE---845
SCN4AFDNVLTVGNLVFTGIFTAEMVLKLIAMDPY>E<YFQQGWNIFDSIIVTLSLVELGLANVQ---663
SCN7ATNTLLNIGNLVFIGIFTAEMIFKIIAMHPY>G<YFQVGWNIFDSMIVFHGLIELCLANVA---590
SCN8AFEHVLAVGNLVFTGIFTAEMFLKLIAMDPY>Y<YFQEGWNIFDGFIVSLSLMELSLADVE---838
SCN9AFKNVLAIGNLVFTGIFAAEMVLKLIAMDPY>E<YFQVGWNIFDSLIVTLSLVELFLADVE---818
SCN10AFEAMLQIGNIVFTIFFTAEMVFKIIAFDPY>Y<YFQKKWNIFDCIIVTVSLLELGVAKKG---750
SCN11AFEKMLNIGNLVFTSIFIAEMCLKIIALDPY>H<YFRRGWNIFDSIVALLSFADVMNCVLQKR-664
CACNA1ALSDFLYYAEFIFLGLFMSEMFIKMYGLGTR>P<YFHSSFNCFDCGVIIGSIFEVIWAVIKPGT575
CACNA1BLTTTLYFAEFVFLGLFLTEMSLKMYGLGPR>S<YFRSSFNCFDFGVIVGSVFEVVWAAIKPGS571
CACNA1CLTEVQDTANKALLALFTAEMLLKMYSLGLQ>A<YFVSLFNRFDCFVVCGGILETILVETKIMS612
CACNA1DLTQIQDIANKVLLALFTCEMLVKMYSLGLQ>A<YFVSLFNRFDCFVVCGGITETILVELEIMS631
CACNA1ELTHLLYYAEFLFLGLFLLEMSLKMYGMGPR>L<YFHSSFNCFDFGVTVGSIFEVVWAIFRPGT564
CACNA1FLTQIQEYANKVLLCLFTVEMLLKLYGLGPS>A<YVSSFFNRFDCFVVCGGILETTLVEVGAMQ617
CACNA1GLTNALEISNIVFTSLFALEMLLKLLVYGPF>G<YIKNPYNIFDGVIVVISVWEIVGQQGG---828
CACNA1HLTNALEISNIVFTSMFALEMLLKLLACGPL>G<YIRNPYNIFDGIIVVISVWEIVGQADG---878
CACNA1ILTNILEICNVVFTSMFALEMILKLAAFGLF>D<YLRNPYNIFDSIIVIISIWEIVGQADG---725
CACNA1SLTRLQDIANRVLLSLFTTEMLMKMYGLGLR>Q<YFMSIFNRFDCFVVCSGILEILLVESGAMT520
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 775 for SCN5A.