Paralogue Annotation for SCN5A residue 266

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 266
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 266

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L263V	Hemiplegic migraine and epilepsy	High	9	19220312, 18621678, 24646837
SCN4A	L266V	Myotonia	High	9	11294924

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	LKTIVGALIQSVKKLADVMVLTVFCLSVFA>L<IGLQLFMGNLRHKCVR--------------	282
SCN1A	LKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCIQ-WP-PTNASLEEH-	290
SCN2A	LKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCLQ-WP-PDNSSFEIN-	291
SCN3A	LKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCLQ-WP-PSDSAFETN-	290
SCN4A	LKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<VGLQLFMGNLRQKCVR-WP-PPFN--DTN-	291
SCN7A	LKSLVGVLIHCLKQLIGVIILTLFFLSIFS>L<IGMGLFMGNLKHKCFR-WP-QENE------	275
SCN8A	LKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCVV-WP-----------	285
SCN9A	LKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLKHKCFR-NS-----------	279
SCN10A	LKVIVGALIHSVKKLADVTILTIFCLSVFA>L<VGLQLFKGNLKNKCVK-N------------	279
SCN11A	LKVIVGALLRSVKKLVNVIILTFFCLSIFA>L<VGQQLFMGSLNLKCIS-R------------	286
CACNA1A	LQVVLKSIMKAMIPLLQIGLLLFFAILIFA>I<IGLEFYMGKFHTTCFE-E-GTD--------	262
CACNA1B	LQVVLKSIMKAMVPLLQIGLLLFFAILMFA>I<IGLEFYMGKFHKACFP-N-STD--------	259
CACNA1C	LQVVLNSIIKAMVPLLHIALLVLFVIIIYA>I<IGLELFMGKMHKTCYNQEGIAD--------	306
CACNA1D	LQVVLNSIIKAMVPLLHIALLVLFVIIIYA>I<IGLELFIGKMHKTCFF-A-DSD--------	307
CACNA1E	LQIVLKSIMKAMVPLLQIGLLLFFAILMFA>I<IGLEFYSGKLHRACFM-N-NSG--------	257
CACNA1F	LHIVLNSIMKALVPLLHIALLVLFVIIIYA>I<IGLELFLGRMHKTCYF-L-GSD--------	273
CACNA1G	MRILVTLLLDTLPMLGNVLLLCFFVFFIFG>I<VGVQLWAGLLRNRCFL-P-ENFSLPLSVD-	254
CACNA1H	MRILVTLLLDTLPMLGNVLLLCFFVFFIFG>I<VGVQLWAGLLRNRCFL-D-SAFVRNNNLTF	274
CACNA1I	MRILVNLLLDTLPMLGNVLLLCFFVFFIFG>I<IGVQLWAGLLRNRCFL-E-ENFTIQGDVA-	252
CACNA1S	LQVVLNSIFKAMLPLFHIALLVLFMVIIYA>I<IGLELFKGKMHKTCYF-I-GTD--------	232
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L266H	c.797T>A	Putative Benign			SIFT: Polyphen: