Paralogue Annotation for SCN5A residue 111

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 111
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 111

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L108R	Epilepsy ?	High	9	21426328
SCN1A	L108P	Dravet syndrome	High	9	26096185

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	LDPFYSTQK-TFI-VLNKGKTIFRFSATNA>L<YVLSPFHPIRRAAVKILVHSLFNMLIMCTI	141
SCN1A	LDPYYINKK-TFI-VLNKGKAIFRFSATSA>L<YILTPFNPLRKIAIKILVHSLFSMLIMCTI	138
SCN2A	LDPYYINKK-TFI-VLNKGKAISRFSATPA>L<YILTPFNPIRKLAIKILVHSLFNMLIMCTI	139
SCN3A	LDPYYINKK-TFI-VMNKGKAIFRFSATSA>L<YILTPLNPVRKIAIKILVHSLFSMLIMCTI	138
SCN4A	LDPYYSNKK-TFI-VLNKGKAIFRFSATPA>L<YLLSPFSVVRRGAIKVLIHALFSMFIMITI	141
SCN7A	VDPYYYKKKNTFI-VLNKNRTIFRFNAASI>L<CTLSPFNCIRRTTIKVLVHPFFQLFILISV	128
SCN8A	FDPYYLTQK-TFV-VLNRGKTLFRFSATPA>L<YILSPFNLIRRIAIKILIHSVFSMIIMCTI	142
SCN9A	LDPYYADKK-TFI-VLNKGKTIFRFNATPA>L<YMLSPFSPLRRISIKILVHSLFSMLIMCTI	136
SCN10A	LDPFYSTHR-TFM-VLNKGRTISRFSATRA>L<WLFSPFNLIRRTAIKVSVHSWFSLFITVTI	140
SCN11A	LDPFYRNHK-TFM-VLNRKRTIYRFSAKHA>L<FIFGPFNSIRSLAIRVSVHSLFSMFIIGTV	139
CACNA1A	KQSMAQRARTMAL-YNPIPVRQNCLTVNRS>L<FLFSEDNVVRKYAKKITEWPPFEYMILATI	108
CACNA1B	KQSIAQRARTMAL-YNPIPVKQNCFTVNRS>L<FVFSEDNVVRKYAKRITEWPPFEYMILATI	105
CACNA1C	VSST-QRKRQQYG-KPKKQGSTTATRPPRA>L<LCLTLKNPIRRACISIVEWKPFEIIILLTI	134
CACNA1D	VGSLSQRKRQQYA-KSKKQGNSSNSRPARA>L<FCLSLNNPIRRACISIVEWKPFDIFILLAI	136
CACNA1E	KQTKAQRARTMAL-YNPIPVRQNCFTVNRS>L<FIFGEDNIVRKYAKKLIDWPPFEYMILATI	99
CACNA1F	SGLGTPKRRNQHS-KHKTVAVASAQRSPRA>L<FCLTLANPLRRSCISIVEWKPFDILILLTI	102
CACNA1G	------EKDPG-SADSEAEGLPYPALAPVV>F<FYLSQDSRPRSWCLRTVCNPWFERISMLVI	91
CACNA1H	------ERGAELG-ADEEQRVPYPALAATV>F<FCLGQTTRPRSWCLRLVCNPWFEHVSMLVI	110
CACNA1I	------LEEPL-D-G-ADPHVPHPDLAPIA>F<FCLRQTTSPRNWCIKMVCNPWFECVSMLVI	89
CACNA1S	--SSPQDEGLRKK-QPKKPVPEILPRPPRA>L<FCLTLENPLRKACISIVEWKPFETIILLTI	61
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 111 for SCN5A.