Paralogue Annotation for SCN5A residue 109

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 109
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 109

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	R70W	Night blindness, congenital stationary 2	Medium	8	23714322
SCN1A	S106F	Dravet syndrome	Medium	8	24902755

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	EDLDPFYSTQK-TFI-VLNKGKTIFRFSAT>N<ALYVLSPFHPIRRAAVKILVHSLFNMLIMC	139
SCN1A	EDLDPYYINKK-TFI-VLNKGKAIFRFSAT>S<ALYILTPFNPLRKIAIKILVHSLFSMLIMC	136
SCN2A	EDLDPYYINKK-TFI-VLNKGKAISRFSAT>P<ALYILTPFNPIRKLAIKILVHSLFNMLIMC	137
SCN3A	EDLDPYYINKK-TFI-VMNKGKAIFRFSAT>S<ALYILTPLNPVRKIAIKILVHSLFSMLIMC	136
SCN4A	EDLDPYYSNKK-TFI-VLNKGKAIFRFSAT>P<ALYLLSPFSVVRRGAIKVLIHALFSMFIMI	139
SCN7A	EDVDPYYYKKKNTFI-VLNKNRTIFRFNAA>S<ILCTLSPFNCIRRTTIKVLVHPFFQLFILI	126
SCN8A	EDFDPYYLTQK-TFV-VLNRGKTLFRFSAT>P<ALYILSPFNLIRRIAIKILIHSVFSMIIMC	140
SCN9A	EDLDPYYADKK-TFI-VLNKGKTIFRFNAT>P<ALYMLSPFSPLRRISIKILVHSLFSMLIMC	134
SCN10A	EDLDPFYSTHR-TFM-VLNKGRTISRFSAT>R<ALWLFSPFNLIRRTAIKVSVHSWFSLFITV	138
SCN11A	EDLDPFYRNHK-TFM-VLNRKRTIYRFSAK>H<ALFIFGPFNSIRSLAIRVSVHSLFSMFIIG	137
CACNA1A	MYKQSMAQRARTMAL-YNPIPVRQNCLTVN>R<SLFLFSEDNVVRKYAKKITEWPPFEYMILA	106
CACNA1B	LYKQSIAQRARTMAL-YNPIPVKQNCFTVN>R<SLFVFSEDNVVRKYAKRITEWPPFEYMILA	103
CACNA1C	STVSST-QRKRQQYG-KPKKQGSTTATRPP>R<ALLCLTLKNPIRRACISIVEWKPFEIIILL	132
CACNA1D	PPVGSLSQRKRQQYA-KSKKQGNSSNSRPA>R<ALFCLSLNNPIRRACISIVEWKPFDIFILL	134
CACNA1E	AYKQTKAQRARTMAL-YNPIPVRQNCFTVN>R<SLFIFGEDNIVRKYAKKLIDWPPFEYMILA	97
CACNA1F	GASGLGTPKRRNQHS-KHKTVAVASAQRSP>R<ALFCLTLANPLRRSCISIVEWKPFDILILL	100
CACNA1G	A-------EKDPG-SADSEAEGLPYPALAP>V<VFFYLSQDSRPRSWCLRTVCNPWFERISML	89
CACNA1H	A-------ERGAELG-ADEEQRVPYPALAA>T<VFFCLGQTTRPRSWCLRLVCNPWFEHVSML	108
CACNA1I	G-------LEEPL-D-G-ADPHVPHPDLAP>I<AFFCLRQTTSPRNWCIKMVCNPWFECVSML	87
CACNA1S	----SSPQDEGLRKK-QPKKPVPEILPRPP>R<ALFCLTLENPLRKACISIVEWKPFETIILL	59
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N109K	c.327C>A	Inherited Arrhythmia	BrS	rs199473056	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	BrS	Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):531-9. 19843921
		Inherited Arrhythmia	BrS	An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283