Paralogue Annotation for SCN5A residue 732

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 732
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 732

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L783P	Myoclonic epilepsy of infancy	High	9	17347258

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	LWMSIKQGVKLVVMDPFTDLTITMCIVLNT>L<FMALEHYNMTSEFEEMLQVGNLVFTGIFTA	762
SCN1A	YWLKVKHVVNLVVMDPFVDLAITICIVLNT>L<FMAMEHYPMTDHFNNVLTVGNLVFTGIFTA	813
SCN2A	PWLKVKHLVNLVVMDPFVDLAITICIVLNT>L<FMAMEHYPMTEQFSSVLSVGNLVFTGIFTA	804
SCN3A	AWLKVKHLVNLIVMDPFVDLAITICIVLNT>L<FMAMEHYPMTEQFSSVLTVGNLVFTGIFTA	805
SCN4A	PWLKFKNIIHLIVMDPFVDLGITICIVLNT>L<FMAMEHYPMTEHFDNVLTVGNLVFTGIFTA	623
SCN7A	CWLKLKEFVHRIIMAPFTDLFLIICIILNV>C<FLTLEHYPMSKQTNTLLNIGNLVFIGIFTA	550
SCN8A	YWIKLKEIVNLIVMDPFVDLAITICIVLNT>L<FMAMEHHPMTPQFEHVLAVGNLVFTGIFTA	798
SCN9A	YWIKFKKCIYFIVMDPFVDLAITICIVLNT>L<FMAMEHHPMTEEFKNVLAIGNLVFTGIFAA	778
SCN10A	MWVKLKTILFGLVTDPFAELTITLCIVVNT>I<FMAMEHHGMSPTFEAMLQIGNIVFTIFFTA	710
SCN11A	QWLCVKKVLRTVMTDPFTELAITICIIINT>V<FLAMEHHKMEASFEKMLNIGNLVFTSIFIA	622
CACNA1A	KERRMRFYIRRMVKTQAFYWTVLSLVALNT>L<CVAIVHYNQPEWLSDFLYYAEFIFLGLFMS	532
CACNA1B	KEKMFRFFIRRMVKAQSFYWVVLCVVALNT>L<CVAMVHYNQPRRLTTTLYFAEFVFLGLFLT	528
CACNA1C	WNRFCRRKCRAAVKSNVFYWLVIFLVFLNT>L<TIASEHYNQPNWLTEVQDTANKALLALFTA	569
CACNA1D	WNRFNRRRCRAAVKSVTFYWLVIVLVFLNT>L<TISSEHYNQPDWLTQIQDIANKVLLALFTC	588
CACNA1E	KERLLRISIRHMVKSQVFYWIVLSLVALNT>A<CVAIVHHNQPQWLTHLLYYAEFLFLGLFLL	521
CACNA1F	ANRVLRARCRRAVKSNACYWAVLLLVFLNT>L<TIASEHHGQPVWLTQIQEYANKVLLCLFTV	574
CACNA1G	FWRLICDTFRKIVDSKYFGRGIMIAILVNT>L<SMGIEYHEQPEELTNALEISNIVFTSLFAL	788
CACNA1H	LWVTFSGKLRRIVDSKYFSRGIMMAILVNT>L<SMGVEYHEQPEELTNALEISNIVFTSMFAL	838
CACNA1I	VWRETRAKLRGIVDSKYFNRGIMMAILVNT>V<SMGIEHHEQPEELTNILEICNVVFTSMFAL	685
CACNA1S	WNRIFRWKCHDIVKSKVFYWLVILIVALNT>L<SIASEHHNQPLWLTRLQDIANRVLLSLFTT	477
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 732 for SCN5A.