Paralogue Annotation for SCN5A residue 96

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 96
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 96

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L93S	Dravet syndrome	High	4	25459968

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	YGNPPQELIGEPLEDLDPFYSTQK-TFI-V>L<NKGKTIFRFSATNALYVLSPFHPIRRAAVK	126
SCN1A	YGDIPPEMVSEPLEDLDPYYINKK-TFI-V>L<NKGKAIFRFSATSALYILTPFNPLRKIAIK	123
SCN2A	YGDIPPEMVSVPLEDLDPYYINKK-TFI-V>L<NKGKAISRFSATPALYILTPFNPIRKLAIK	124
SCN3A	YGDIPPEMVSEPLEDLDPYYINKK-TFI-V>M<NKGKAIFRFSATSALYILTPLNPVRKIAIK	123
SCN4A	YGDPPPEVIGIPLEDLDPYYSNKK-TFI-V>L<NKGKAIFRFSATPALYLLSPFSVVRRGAIK	126
SCN7A	YGNLSQGMVSEPLEDVDPYYYKKKNTFI-V>L<NKNRTIFRFNAASILCTLSPFNCIRRTTIK	113
SCN8A	YGDIPQGLVAVPLEDFDPYYLTQK-TFV-V>L<NRGKTLFRFSATPALYILSPFNLIRRIAIK	127
SCN9A	YGDIPPGMVSEPLEDLDPYYADKK-TFI-V>L<NKGKTIFRFNATPALYMLSPFSPLRRISIK	121
SCN10A	YGELPAELIGEPLEDLDPFYSTHR-TFM-V>L<NKGRTISRFSATRALWLFSPFNLIRRTAIK	125
SCN11A	YGDIPRELIGKPLEDLDPFYRNHK-TFM-V>L<NRKRTIYRFSAKHALFIFGPFNSIRSLAIR	124
CACNA1A	-----------QRMYKQSMAQRARTMAL-Y>N<PIPVRQNCLTVNRSLFLFSEDNVVRKYAKK	93
CACNA1B	-----------RVLYKQSIAQRARTMAL-Y>N<PIPVKQNCFTVNRSLFVFSEDNVVRKYAKR	90
CACNA1C	QAKLMGSAGNATISTVSST-QRKRQQYG-K>P<KKQGSTTATRPPRALLCLTLKNPIRRACIS	119
CACNA1D	QAKAAQTMSTSAPPPVGSLSQRKRQQYA-K>S<KKQGNSSNSRPARALFCLSLNNPIRRACIS	121
CACNA1E	-----------AAAYKQTKAQRARTMAL-Y>N<PIPVRQNCFTVNRSLFIFGEDNIVRKYAKK	84
CACNA1F	--------EGESSGASGLGTPKRRNQHS-K>H<KTVAVASAQRSPRALFCLTLANPLRRSCIS	87
CACNA1G	----------PGSA-------EKDPG-SAD>S<EAEGLPYPALAPVVFFYLSQDSRPRSWCLR	76
CACNA1H	----------P-AA-------ERGAELG-A>D<EEQRVPYPALAATVFFCLGQTTRPRSWCLR	95
CACNA1I	----------SPPG-------LEEPL-D-G>-<ADPHVPHPDLAPIAFFCLRQTTSPRNWCIK	74
CACNA1S	-----------------SSPQDEGLRKK-Q>P<KKPVPEILPRPPRALFCLTLENPLRKACIS	46
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 96 for SCN5A.