Paralogue Annotation for SCN5A residue 758

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 758
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 758

No paralogue variants have been mapped to residue 758 for SCN5A.

SCN5A	VLNTLFMALEHYNMTSEFEEMLQVGNLVFT>G<IFTAEMTFKIIALDPYYYFQQGWNIFDSII	788
SCN1A	VLNTLFMAMEHYPMTDHFNNVLTVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI	839
SCN2A	VLNTLFMAMEHYPMTEQFSSVLSVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI	830
SCN3A	VLNTLFMAMEHYPMTEQFSSVLTVGNLVFT>G<IFTAEMVLKIIAMDPYYYFQEGWNIFDGII	831
SCN4A	VLNTLFMAMEHYPMTEHFDNVLTVGNLVFT>G<IFTAEMVLKLIAMDPYEYFQQGWNIFDSII	649
SCN7A	ILNVCFLTLEHYPMSKQTNTLLNIGNLVFI>G<IFTAEMIFKIIAMHPYGYFQVGWNIFDSMI	576
SCN8A	VLNTLFMAMEHHPMTPQFEHVLAVGNLVFT>G<IFTAEMFLKLIAMDPYYYFQEGWNIFDGFI	824
SCN9A	VLNTLFMAMEHHPMTEEFKNVLAIGNLVFT>G<IFAAEMVLKLIAMDPYEYFQVGWNIFDSLI	804
SCN10A	VVNTIFMAMEHHGMSPTFEAMLQIGNIVFT>I<FFTAEMVFKIIAFDPYYYFQKKWNIFDCII	736
SCN11A	IINTVFLAMEHHKMEASFEKMLNIGNLVFT>S<IFIAEMCLKIIALDPYHYFRRGWNIFDSIV	648
CACNA1A	ALNTLCVAIVHYNQPEWLSDFLYYAEFIFL>G<LFMSEMFIKMYGLGTRPYFHSSFNCFDCGV	558
CACNA1B	ALNTLCVAMVHYNQPRRLTTTLYFAEFVFL>G<LFLTEMSLKMYGLGPRSYFRSSFNCFDFGV	554
CACNA1C	FLNTLTIASEHYNQPNWLTEVQDTANKALL>A<LFTAEMLLKMYSLGLQAYFVSLFNRFDCFV	595
CACNA1D	FLNTLTISSEHYNQPDWLTQIQDIANKVLL>A<LFTCEMLVKMYSLGLQAYFVSLFNRFDCFV	614
CACNA1E	ALNTACVAIVHHNQPQWLTHLLYYAEFLFL>G<LFLLEMSLKMYGMGPRLYFHSSFNCFDFGV	547
CACNA1F	FLNTLTIASEHHGQPVWLTQIQEYANKVLL>C<LFTVEMLLKLYGLGPSAYVSSFFNRFDCFV	600
CACNA1G	LVNTLSMGIEYHEQPEELTNALEISNIVFT>S<LFALEMLLKLLVYGPFGYIKNPYNIFDGVI	814
CACNA1H	LVNTLSMGVEYHEQPEELTNALEISNIVFT>S<MFALEMLLKLLACGPLGYIRNPYNIFDGII	864
CACNA1I	LVNTVSMGIEHHEQPEELTNILEICNVVFT>S<MFALEMILKLAAFGLFDYLRNPYNIFDSII	711
CACNA1S	ALNTLSIASEHHNQPLWLTRLQDIANRVLL>S<LFTTEMLMKMYGLGLRQYFMSIFNRFDCFV	503
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G758E	c.2273G>A	Inherited Arrhythmia	BrS	rs199473154	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	BrS	An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283