Paralogue Annotation for SCN5A residue 763

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 763
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 763

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	E533K	Episodic ataxia 2	High	9	16583725, 24445160

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	FMALEHYNMTSEFEEMLQVGNLVFTGIFTA>E<MTFKIIALDPYYYFQQGWNIFDSIIVILSL	793
SCN1A	FMAMEHYPMTDHFNNVLTVGNLVFTGIFTA>E<MFLKIIAMDPYYYFQEGWNIFDGFIVTLSL	844
SCN2A	FMAMEHYPMTEQFSSVLSVGNLVFTGIFTA>E<MFLKIIAMDPYYYFQEGWNIFDGFIVSLSL	835
SCN3A	FMAMEHYPMTEQFSSVLTVGNLVFTGIFTA>E<MVLKIIAMDPYYYFQEGWNIFDGIIVSLSL	836
SCN4A	FMAMEHYPMTEHFDNVLTVGNLVFTGIFTA>E<MVLKLIAMDPYEYFQQGWNIFDSIIVTLSL	654
SCN7A	FLTLEHYPMSKQTNTLLNIGNLVFIGIFTA>E<MIFKIIAMHPYGYFQVGWNIFDSMIVFHGL	581
SCN8A	FMAMEHHPMTPQFEHVLAVGNLVFTGIFTA>E<MFLKLIAMDPYYYFQEGWNIFDGFIVSLSL	829
SCN9A	FMAMEHHPMTEEFKNVLAIGNLVFTGIFAA>E<MVLKLIAMDPYEYFQVGWNIFDSLIVTLSL	809
SCN10A	FMAMEHHGMSPTFEAMLQIGNIVFTIFFTA>E<MVFKIIAFDPYYYFQKKWNIFDCIIVTVSL	741
SCN11A	FLAMEHHKMEASFEKMLNIGNLVFTSIFIA>E<MCLKIIALDPYHYFRRGWNIFDSIVALLSF	653
CACNA1A	CVAIVHYNQPEWLSDFLYYAEFIFLGLFMS>E<MFIKMYGLGTRPYFHSSFNCFDCGVIIGSI	563
CACNA1B	CVAMVHYNQPRRLTTTLYFAEFVFLGLFLT>E<MSLKMYGLGPRSYFRSSFNCFDFGVIVGSV	559
CACNA1C	TIASEHYNQPNWLTEVQDTANKALLALFTA>E<MLLKMYSLGLQAYFVSLFNRFDCFVVCGGI	600
CACNA1D	TISSEHYNQPDWLTQIQDIANKVLLALFTC>E<MLVKMYSLGLQAYFVSLFNRFDCFVVCGGI	619
CACNA1E	CVAIVHHNQPQWLTHLLYYAEFLFLGLFLL>E<MSLKMYGMGPRLYFHSSFNCFDFGVTVGSI	552
CACNA1F	TIASEHHGQPVWLTQIQEYANKVLLCLFTV>E<MLLKLYGLGPSAYVSSFFNRFDCFVVCGGI	605
CACNA1G	SMGIEYHEQPEELTNALEISNIVFTSLFAL>E<MLLKLLVYGPFGYIKNPYNIFDGVIVVISV	819
CACNA1H	SMGVEYHEQPEELTNALEISNIVFTSMFAL>E<MLLKLLACGPLGYIRNPYNIFDGIIVVISV	869
CACNA1I	SMGIEHHEQPEELTNILEICNVVFTSMFAL>E<MILKLAAFGLFDYLRNPYNIFDSIIVIISI	716
CACNA1S	SIASEHHNQPLWLTRLQDIANRVLLSLFTT>E<MLMKMYGLGLRQYFMSIFNRFDCFVVCSGI	508
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E763D	c.2289G>C	Putative Benign			SIFT: Polyphen:
p.E763K	c.2287G>A	Putative Benign			SIFT: Polyphen: