Paralogue Annotation for SCN5A residue 84

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 84
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 84

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D81N	Dravet syndrome	Medium	3	27236449
SCN1A	D81E	Dravet syndrome	Medium	3	26169758

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	PQLDLQASKKLPDLYGNPPQELIGEPLEDL>D<PFYSTQK-TFI-VLNKGKTIFRFSATNALY	112
SCN1A	PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL>D<PYYINKK-TFI-VLNKGKAIFRFSATSALY	109
SCN2A	PNSDLEAGKSLPFIYGDIPPEMVSVPLEDL>D<PYYINKK-TFI-VLNKGKAISRFSATPALY	110
SCN3A	PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL>D<PYYINKK-TFI-VMNKGKAIFRFSATSALY	109
SCN4A	PRSDLEAGKNLPMIYGDPPPEVIGIPLEDL>D<PYYSNKK-TFI-VLNKGKAIFRFSATPALY	112
SCN7A	PTPDLEVGKKLPFIYGNLSQGMVSEPLEDV>D<PYYYKKKNTFI-VLNKNRTIFRFNAASILC	99
SCN8A	PNSDLEAGKSLPFIYGDIPQGLVAVPLEDF>D<PYYLTQK-TFV-VLNRGKTLFRFSATPALY	113
SCN9A	PSSDLEAGKQLPFIYGDIPPGMVSEPLEDL>D<PYYADKK-TFI-VLNKGKTIFRFNATPALY	107
SCN10A	PQLDLKACNQLPKFYGELPAELIGEPLEDL>D<PFYSTHR-TFM-VLNKGRTISRFSATRALW	111
SCN11A	PQLDLKASRKLPKLYGDIPRELIGKPLEDL>D<PFYRNHK-TFM-VLNRKRTIYRFSAKHALF	110
CACNA1A	GGQ--------PGA-----------QRMYK>Q<SMAQRARTMAL-YNPIPVRQNCLTVNRSLF	79
CACNA1B	GGLQ-------PGQ-----------RVLYK>Q<SIAQRARTMAL-YNPIPVKQNCFTVNRSLF	76
CACNA1C	GAALSWQAAIDAARQAKLMGSAGNATISTV>S<ST-QRKRQQYG-KPKKQGSTTATRPPRALL	105
CACNA1D	QTVLSWQAAIDAARQAKAAQTMSTSAPPPV>G<SLSQRKRQQYA-KSKKQGNSSNSRPARALF	107
CACNA1E	A----------SGQ-----------AAAYK>Q<TKAQRARTMAL-YNPIPVRQNCFTVNRSLF	70
CACNA1F	----P-------AV--------EGESSGAS>G<LGTPKRRNQHS-KHKTVAVASAQRSPRALF	73
CACNA1G	P-----------G-----------PGSA-->-<----EKDPG-SADSEAEGLPYPALAPVVFF	62
CACNA1H	E-----------S-----------P-AA-->-<----ERGAELG-ADEEQRVPYPALAATVFF	81
CACNA1I	S--P-------PS-----------SPPG-->-<----LEEPL-D-G-ADPHVPHPDLAPIAFF	60
CACNA1S	------------------------------>-<SSPQDEGLRKK-QPKKPVPEILPRPPRALF	32
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D84N	c.250G>A	Inherited Arrhythmia	BrS	rs199473051	SIFT: deleterious Polyphen: probably damaging
Reports		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