Paralogue Annotation for SCN5A residue 742

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 742
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 742

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T793M	Dravet syndrome	High	9	22848613

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	LVVMDPFTDLTITMCIVLNTLFMALEHYNM>T<SEFEEMLQVGNLVFTGIFTAEMTFKIIALD	772
SCN1A	LVVMDPFVDLAITICIVLNTLFMAMEHYPM>T<DHFNNVLTVGNLVFTGIFTAEMFLKIIAMD	823
SCN2A	LVVMDPFVDLAITICIVLNTLFMAMEHYPM>T<EQFSSVLSVGNLVFTGIFTAEMFLKIIAMD	814
SCN3A	LIVMDPFVDLAITICIVLNTLFMAMEHYPM>T<EQFSSVLTVGNLVFTGIFTAEMVLKIIAMD	815
SCN4A	LIVMDPFVDLGITICIVLNTLFMAMEHYPM>T<EHFDNVLTVGNLVFTGIFTAEMVLKLIAMD	633
SCN7A	RIIMAPFTDLFLIICIILNVCFLTLEHYPM>S<KQTNTLLNIGNLVFIGIFTAEMIFKIIAMH	560
SCN8A	LIVMDPFVDLAITICIVLNTLFMAMEHHPM>T<PQFEHVLAVGNLVFTGIFTAEMFLKLIAMD	808
SCN9A	FIVMDPFVDLAITICIVLNTLFMAMEHHPM>T<EEFKNVLAIGNLVFTGIFAAEMVLKLIAMD	788
SCN10A	GLVTDPFAELTITLCIVVNTIFMAMEHHGM>S<PTFEAMLQIGNIVFTIFFTAEMVFKIIAFD	720
SCN11A	TVMTDPFTELAITICIIINTVFLAMEHHKM>E<ASFEKMLNIGNLVFTSIFIAEMCLKIIALD	632
CACNA1A	RMVKTQAFYWTVLSLVALNTLCVAIVHYNQ>P<EWLSDFLYYAEFIFLGLFMSEMFIKMYGLG	542
CACNA1B	RMVKAQSFYWVVLCVVALNTLCVAMVHYNQ>P<RRLTTTLYFAEFVFLGLFLTEMSLKMYGLG	538
CACNA1C	AAVKSNVFYWLVIFLVFLNTLTIASEHYNQ>P<NWLTEVQDTANKALLALFTAEMLLKMYSLG	579
CACNA1D	AAVKSVTFYWLVIVLVFLNTLTISSEHYNQ>P<DWLTQIQDIANKVLLALFTCEMLVKMYSLG	598
CACNA1E	HMVKSQVFYWIVLSLVALNTACVAIVHHNQ>P<QWLTHLLYYAEFLFLGLFLLEMSLKMYGMG	531
CACNA1F	RAVKSNACYWAVLLLVFLNTLTIASEHHGQ>P<VWLTQIQEYANKVLLCLFTVEMLLKLYGLG	584
CACNA1G	KIVDSKYFGRGIMIAILVNTLSMGIEYHEQ>P<EELTNALEISNIVFTSLFALEMLLKLLVYG	798
CACNA1H	RIVDSKYFSRGIMMAILVNTLSMGVEYHEQ>P<EELTNALEISNIVFTSMFALEMLLKLLACG	848
CACNA1I	GIVDSKYFNRGIMMAILVNTVSMGIEHHEQ>P<EELTNILEICNVVFTSMFALEMILKLAAFG	695
CACNA1S	DIVKSKVFYWLVILIVALNTLSIASEHHNQ>P<LWLTRLQDIANRVLLSLFTTEMLMKMYGLG	487
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T742A	c.2224A>G	Putative Benign			SIFT: Polyphen: