Paralogue Annotation for SCN5A residue 754

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 754
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 754

No paralogue variants have been mapped to residue 754 for SCN5A.



SCN5ATMCIVLNTLFMALEHYNMTSEFEEMLQVGN>L<VFTGIFTAEMTFKIIALDPYYYFQQGWNIF784
SCN1ATICIVLNTLFMAMEHYPMTDHFNNVLTVGN>L<VFTGIFTAEMFLKIIAMDPYYYFQEGWNIF835
SCN2ATICIVLNTLFMAMEHYPMTEQFSSVLSVGN>L<VFTGIFTAEMFLKIIAMDPYYYFQEGWNIF826
SCN3ATICIVLNTLFMAMEHYPMTEQFSSVLTVGN>L<VFTGIFTAEMVLKIIAMDPYYYFQEGWNIF827
SCN4ATICIVLNTLFMAMEHYPMTEHFDNVLTVGN>L<VFTGIFTAEMVLKLIAMDPYEYFQQGWNIF645
SCN7AIICIILNVCFLTLEHYPMSKQTNTLLNIGN>L<VFIGIFTAEMIFKIIAMHPYGYFQVGWNIF572
SCN8ATICIVLNTLFMAMEHHPMTPQFEHVLAVGN>L<VFTGIFTAEMFLKLIAMDPYYYFQEGWNIF820
SCN9ATICIVLNTLFMAMEHHPMTEEFKNVLAIGN>L<VFTGIFAAEMVLKLIAMDPYEYFQVGWNIF800
SCN10ATLCIVVNTIFMAMEHHGMSPTFEAMLQIGN>I<VFTIFFTAEMVFKIIAFDPYYYFQKKWNIF732
SCN11ATICIIINTVFLAMEHHKMEASFEKMLNIGN>L<VFTSIFIAEMCLKIIALDPYHYFRRGWNIF644
CACNA1ALSLVALNTLCVAIVHYNQPEWLSDFLYYAE>F<IFLGLFMSEMFIKMYGLGTRPYFHSSFNCF554
CACNA1BLCVVALNTLCVAMVHYNQPRRLTTTLYFAE>F<VFLGLFLTEMSLKMYGLGPRSYFRSSFNCF550
CACNA1CIFLVFLNTLTIASEHYNQPNWLTEVQDTAN>K<ALLALFTAEMLLKMYSLGLQAYFVSLFNRF591
CACNA1DIVLVFLNTLTISSEHYNQPDWLTQIQDIAN>K<VLLALFTCEMLVKMYSLGLQAYFVSLFNRF610
CACNA1ELSLVALNTACVAIVHHNQPQWLTHLLYYAE>F<LFLGLFLLEMSLKMYGMGPRLYFHSSFNCF543
CACNA1FLLLVFLNTLTIASEHHGQPVWLTQIQEYAN>K<VLLCLFTVEMLLKLYGLGPSAYVSSFFNRF596
CACNA1GMIAILVNTLSMGIEYHEQPEELTNALEISN>I<VFTSLFALEMLLKLLVYGPFGYIKNPYNIF810
CACNA1HMMAILVNTLSMGVEYHEQPEELTNALEISN>I<VFTSMFALEMLLKLLACGPLGYIRNPYNIF860
CACNA1IMMAILVNTVSMGIEHHEQPEELTNILEICN>V<VFTSMFALEMILKLAAFGLFDYLRNPYNIF707
CACNA1SILIVALNTLSIASEHHNQPLWLTRLQDIAN>R<VLLSLFTTEMLMKMYGLGLRQYFMSIFNRF499
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L754Rc.2261T>G Putative BenignSIFT: deleterious
Polyphen: probably damaging