Paralogue Annotation for SCN5A residue 265

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 265
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 265

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	A263V	Neonatal epilepsy, late-onset ataxia, myoclonus &	High	9	20956790, 23550958, 27159988
SCN2A	A263T	Epileptic encephalopathy, early onset	High	9	23935176

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	GLKTIVGALIQSVKKLADVMVLTVFCLSVF>A<LIGLQLFMGNLRHKCVR-------------	282
SCN1A	GLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCIQ-WP-PTNASLEEH	290
SCN2A	GLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCLQ-WP-PDNSSFEIN	291
SCN3A	GLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCLQ-WP-PSDSAFETN	290
SCN4A	GLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LVGLQLFMGNLRQKCVR-WP-PPFN--DTN	291
SCN7A	GLKSLVGVLIHCLKQLIGVIILTLFFLSIF>S<LIGMGLFMGNLKHKCFR-WP-QENE-----	275
SCN8A	GLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCVV-WP----------	285
SCN9A	GLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLKHKCFR-NS----------	279
SCN10A	GLKVIVGALIHSVKKLADVTILTIFCLSVF>A<LVGLQLFKGNLKNKCVK-N-----------	279
SCN11A	RLKVIVGALLRSVKKLVNVIILTFFCLSIF>A<LVGQQLFMGSLNLKCIS-R-----------	286
CACNA1A	SLQVVLKSIMKAMIPLLQIGLLLFFAILIF>A<IIGLEFYMGKFHTTCFE-E-GTD-------	262
CACNA1B	SLQVVLKSIMKAMVPLLQIGLLLFFAILMF>A<IIGLEFYMGKFHKACFP-N-STD-------	259
CACNA1C	SLQVVLNSIIKAMVPLLHIALLVLFVIIIY>A<IIGLELFMGKMHKTCYNQEGIAD-------	306
CACNA1D	SLQVVLNSIIKAMVPLLHIALLVLFVIIIY>A<IIGLELFIGKMHKTCFF-A-DSD-------	307
CACNA1E	SLQIVLKSIMKAMVPLLQIGLLLFFAILMF>A<IIGLEFYSGKLHRACFM-N-NSG-------	257
CACNA1F	SLHIVLNSIMKALVPLLHIALLVLFVIIIY>A<IIGLELFLGRMHKTCYF-L-GSD-------	273
CACNA1G	SMRILVTLLLDTLPMLGNVLLLCFFVFFIF>G<IVGVQLWAGLLRNRCFL-P-ENFSLPLSVD	254
CACNA1H	SMRILVTLLLDTLPMLGNVLLLCFFVFFIF>G<IVGVQLWAGLLRNRCFL-D-SAFVRNNNLT	273
CACNA1I	SMRILVNLLLDTLPMLGNVLLLCFFVFFIF>G<IIGVQLWAGLLRNRCFL-E-ENFTIQGDVA	252
CACNA1S	SLQVVLNSIFKAMLPLFHIALLVLFMVIIY>A<IIGLELFKGKMHKTCYF-I-GTD-------	232
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A265V	c.794C>T	Putative Benign			SIFT: Polyphen: