Paralogue Annotation for SCN5A residue 106

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 106
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 106

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	S103G	Myoclonic epilepsy of infancy	High	8	12566275
SCN1A	S103I	Dravet syndrome	High	8	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	EPLEDLDPFYSTQK-TFI-VLNKGKTIFRF>S<ATNALYVLSPFHPIRRAAVKILVHSLFNML	136
SCN1A	EPLEDLDPYYINKK-TFI-VLNKGKAIFRF>S<ATSALYILTPFNPLRKIAIKILVHSLFSML	133
SCN2A	VPLEDLDPYYINKK-TFI-VLNKGKAISRF>S<ATPALYILTPFNPIRKLAIKILVHSLFNML	134
SCN3A	EPLEDLDPYYINKK-TFI-VMNKGKAIFRF>S<ATSALYILTPLNPVRKIAIKILVHSLFSML	133
SCN4A	IPLEDLDPYYSNKK-TFI-VLNKGKAIFRF>S<ATPALYLLSPFSVVRRGAIKVLIHALFSMF	136
SCN7A	EPLEDVDPYYYKKKNTFI-VLNKNRTIFRF>N<AASILCTLSPFNCIRRTTIKVLVHPFFQLF	123
SCN8A	VPLEDFDPYYLTQK-TFV-VLNRGKTLFRF>S<ATPALYILSPFNLIRRIAIKILIHSVFSMI	137
SCN9A	EPLEDLDPYYADKK-TFI-VLNKGKTIFRF>N<ATPALYMLSPFSPLRRISIKILVHSLFSML	131
SCN10A	EPLEDLDPFYSTHR-TFM-VLNKGRTISRF>S<ATRALWLFSPFNLIRRTAIKVSVHSWFSLF	135
SCN11A	KPLEDLDPFYRNHK-TFM-VLNRKRTIYRF>S<AKHALFIFGPFNSIRSLAIRVSVHSLFSMF	134
CACNA1A	-QRMYKQSMAQRARTMAL-YNPIPVRQNCL>T<VNRSLFLFSEDNVVRKYAKKITEWPPFEYM	103
CACNA1B	-RVLYKQSIAQRARTMAL-YNPIPVKQNCF>T<VNRSLFVFSEDNVVRKYAKRITEWPPFEYM	100
CACNA1C	ATISTVSST-QRKRQQYG-KPKKQGSTTAT>R<PPRALLCLTLKNPIRRACISIVEWKPFEII	129
CACNA1D	SAPPPVGSLSQRKRQQYA-KSKKQGNSSNS>R<PARALFCLSLNNPIRRACISIVEWKPFDIF	131
CACNA1E	-AAAYKQTKAQRARTMAL-YNPIPVRQNCF>T<VNRSLFIFGEDNIVRKYAKKLIDWPPFEYM	94
CACNA1F	ESSGASGLGTPKRRNQHS-KHKTVAVASAQ>R<SPRALFCLTLANPLRRSCISIVEWKPFDIL	97
CACNA1G	PGSA-------EKDPG-SADSEAEGLPYPA>L<APVVFFYLSQDSRPRSWCLRTVCNPWFERI	86
CACNA1H	P-AA-------ERGAELG-ADEEQRVPYPA>L<AATVFFCLGQTTRPRSWCLRLVCNPWFEHV	105
CACNA1I	SPPG-------LEEPL-D-G-ADPHVPHPD>L<APIAFFCLRQTTSPRNWCIKMVCNPWFECV	84
CACNA1S	-------SSPQDEGLRKK-QPKKPVPEILP>R<PPRALFCLTLENPLRKACISIVEWKPFETI	56
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S106T	c.317G>C	Putative Benign			SIFT: Polyphen: