Paralogue Annotation for SCN5A residue 757

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 757
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 757

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T808S	Myoclonic epilepsy of infancy	High	9	12566275, 16210358

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.

SCN5A	IVLNTLFMALEHYNMTSEFEEMLQVGNLVF>T<GIFTAEMTFKIIALDPYYYFQQGWNIFDSI	787
SCN1A	IVLNTLFMAMEHYPMTDHFNNVLTVGNLVF>T<GIFTAEMFLKIIAMDPYYYFQEGWNIFDGF	838
SCN2A	IVLNTLFMAMEHYPMTEQFSSVLSVGNLVF>T<GIFTAEMFLKIIAMDPYYYFQEGWNIFDGF	829
SCN3A	IVLNTLFMAMEHYPMTEQFSSVLTVGNLVF>T<GIFTAEMVLKIIAMDPYYYFQEGWNIFDGI	830
SCN4A	IVLNTLFMAMEHYPMTEHFDNVLTVGNLVF>T<GIFTAEMVLKLIAMDPYEYFQQGWNIFDSI	648
SCN7A	IILNVCFLTLEHYPMSKQTNTLLNIGNLVF>I<GIFTAEMIFKIIAMHPYGYFQVGWNIFDSM	575
SCN8A	IVLNTLFMAMEHHPMTPQFEHVLAVGNLVF>T<GIFTAEMFLKLIAMDPYYYFQEGWNIFDGF	823
SCN9A	IVLNTLFMAMEHHPMTEEFKNVLAIGNLVF>T<GIFAAEMVLKLIAMDPYEYFQVGWNIFDSL	803
SCN10A	IVVNTIFMAMEHHGMSPTFEAMLQIGNIVF>T<IFFTAEMVFKIIAFDPYYYFQKKWNIFDCI	735
SCN11A	IIINTVFLAMEHHKMEASFEKMLNIGNLVF>T<SIFIAEMCLKIIALDPYHYFRRGWNIFDSI	647
CACNA1A	VALNTLCVAIVHYNQPEWLSDFLYYAEFIF>L<GLFMSEMFIKMYGLGTRPYFHSSFNCFDCG	557
CACNA1B	VALNTLCVAMVHYNQPRRLTTTLYFAEFVF>L<GLFLTEMSLKMYGLGPRSYFRSSFNCFDFG	553
CACNA1C	VFLNTLTIASEHYNQPNWLTEVQDTANKAL>L<ALFTAEMLLKMYSLGLQAYFVSLFNRFDCF	594
CACNA1D	VFLNTLTISSEHYNQPDWLTQIQDIANKVL>L<ALFTCEMLVKMYSLGLQAYFVSLFNRFDCF	613
CACNA1E	VALNTACVAIVHHNQPQWLTHLLYYAEFLF>L<GLFLLEMSLKMYGMGPRLYFHSSFNCFDFG	546
CACNA1F	VFLNTLTIASEHHGQPVWLTQIQEYANKVL>L<CLFTVEMLLKLYGLGPSAYVSSFFNRFDCF	599
CACNA1G	ILVNTLSMGIEYHEQPEELTNALEISNIVF>T<SLFALEMLLKLLVYGPFGYIKNPYNIFDGV	813
CACNA1H	ILVNTLSMGVEYHEQPEELTNALEISNIVF>T<SMFALEMLLKLLACGPLGYIRNPYNIFDGI	863
CACNA1I	ILVNTVSMGIEHHEQPEELTNILEICNVVF>T<SMFALEMILKLAAFGLFDYLRNPYNIFDSI	710
CACNA1S	VALNTLSIASEHHNQPLWLTRLQDIANRVL>L<SLFTTEMLMKMYGLGLRQYFMSIFNRFDCF	502
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 757 for SCN5A.