Paralogue Annotation for SCN5A residue 268

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 268
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 268

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G265W	Myoclonic epilepsy of infancy	High	9	12566275
CACNA1F	G255E	Night blindness, congenital stationary 2	High	9	24163243

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	TIVGALIQSVKKLADVMVLTVFCLSVFALI>G<LQLFMGNLRHKCVR----------------	282
SCN1A	TIVGALIQSVKKLSDVMILTVFCLSVFALI>G<LQLFMGNLRNKCIQ-WP-PTNASLEEH-SI	292
SCN2A	TIVGALIQSVKKLSDVMILTVFCLSVFALI>G<LQLFMGNLRNKCLQ-WP-PDNSSFEIN-IT	293
SCN3A	TIVGALIQSVKKLSDVMILTVFCLSVFALI>G<LQLFMGNLRNKCLQ-WP-PSDSAFETN-TT	292
SCN4A	TIVGALIQSVKKLSDVMILTVFCLSVFALV>G<LQLFMGNLRQKCVR-WP-PPFN--DTN-TT	293
SCN7A	SLVGVLIHCLKQLIGVIILTLFFLSIFSLI>G<MGLFMGNLKHKCFR-WP-QENE--------	275
SCN8A	TIVGALIQSVKKLSDVMILTVFCLSVFALI>G<LQLFMGNLRNKCVV-WP-------------	285
SCN9A	TIVGALIQSVKKLSDVMILTVFCLSVFALI>G<LQLFMGNLKHKCFR-NS-------------	279
SCN10A	VIVGALIHSVKKLADVTILTIFCLSVFALV>G<LQLFKGNLKNKCVK-N--------------	279
SCN11A	VIVGALLRSVKKLVNVIILTFFCLSIFALV>G<QQLFMGSLNLKCIS-R--------------	286
CACNA1A	VVLKSIMKAMIPLLQIGLLLFFAILIFAII>G<LEFYMGKFHTTCFE-E-GTD----------	262
CACNA1B	VVLKSIMKAMVPLLQIGLLLFFAILMFAII>G<LEFYMGKFHKACFP-N-STD----------	259
CACNA1C	VVLNSIIKAMVPLLHIALLVLFVIIIYAII>G<LELFMGKMHKTCYNQEGIAD----------	306
CACNA1D	VVLNSIIKAMVPLLHIALLVLFVIIIYAII>G<LELFIGKMHKTCFF-A-DSD----------	307
CACNA1E	IVLKSIMKAMVPLLQIGLLLFFAILMFAII>G<LEFYSGKLHRACFM-N-NSG----------	257
CACNA1F	IVLNSIMKALVPLLHIALLVLFVIIIYAII>G<LELFLGRMHKTCYF-L-GSD----------	273
CACNA1G	ILVTLLLDTLPMLGNVLLLCFFVFFIFGIV>G<VQLWAGLLRNRCFL-P-ENFSLPLSVD-LE	256
CACNA1H	ILVTLLLDTLPMLGNVLLLCFFVFFIFGIV>G<VQLWAGLLRNRCFL-D-SAFVRNNNLTFLR	276
CACNA1I	ILVNLLLDTLPMLGNVLLLCFFVFFIFGII>G<VQLWAGLLRNRCFL-E-ENFTIQGDVA-LP	254
CACNA1S	VVLNSIFKAMLPLFHIALLVLFMVIIYAII>G<LELFKGKMHKTCYF-I-GTD----------	232
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G268S	c.802G>A	Putative Benign			SIFT: Polyphen: