Paralogue Annotation for SCN5A residue 1365

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1365
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1365

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	N1378T	Dravet syndrome C ?	High	9	21248271
SCN1A	N1378H	Dravet syndrome C ?	High	9	21248271

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	MNVLLVCLIFWLIFSIMGVNLFAGKFGRCI>N<QTEGDL-P-LNYTIVNNKSQCESLNLTGE-	1392
SCN1A	MNVLLVCLIFWLIFSIMGVNLFAGKFYHCI>N<TTTGDR---FDIEDVNNHTDCLKLIERNET	1405
SCN2A	MNVLLVCLIFWLIFSIMGVNLFAGKFYHCI>N<YTTGEM---FDVSVVNNYSECKALIESNQT	1395
SCN3A	MNVLLVCLIFWLIFSIMGVNLFAGKFYHCV>N<MTTGNM---FDISDVNNLSDCQALGK--Q-	1390
SCN4A	MNVLLVCLIFWLIFSIMGVNLFAGKFYYCI>N<TTTSER---FDISEVNNKSECESLMHTGQ-	1217
SCN7A	LNVFLVCLMIWLIFSIMGVDLFAGRFYECI>D<PTSGER---FPSSEVMNKSRCESLLFNES-	1115
SCN8A	MNVLLVCLIFWLIFSIMGVNLFAGKYHYCF>N<ETSEIR---FEIEDVNNKTECEKLMEGNNT	1385
SCN9A	MNVLLVCLIFWLIFSIMGVNLFAGKFYECI>N<TTDGSR---FPASQVPNRSECFALMNVSQN	1368
SCN10A	MNVLLVCLIFWLIFSIMGVNLFAGKFWRCI>N<YTDGEF-SLVPLSIVNNKSDCKIQNSTGS-	1340
SCN11A	LNVLLVCLIFWLVFCILGVYFFSGKFGKCI>N<GTDSVI----NYTIITNKSQCESGN-----	1230
CACNA1A	FNILIVYMLFMFIFAVVAVQLFKGKFFHCT>D<ESKEFEKDCRGKYLLYEKNEVK----AR--	1432
CACNA1B	LNILIVYMLFMFIFAVIAVQLFKGKFFYCT>D<ESKELERDCRGQYLDYEKEEVE----AQ--	1338
CACNA1C	GNIVIVTTLLQFMFACIGVQLFKGKLYTCS>D<SSKQTEAECKGNYITYKDGEVDHP-IIQ--	1087
CACNA1D	GNIMIVTTLLQFMFACIGVQLFKGKFYRCT>D<EAKSNPEECRGLFILYKDGDVDSP-VVR--	1093
CACNA1E	FNILIVYKLFMFIFAVIAVQLFKGKFFYCT>D<SSKDTEKECIGNYVDHEKNKME----VK--	1344
CACNA1F	GNIMIVTTLLQFMFACIGVQLFKGKFYTCT>D<EAKHTPQECKGSFLVYPDGDVSRP-LVR--	1058
CACNA1G	GNIVVICCAFFIIFGILGVQLFKGKFFVCQ>G<ED---------TRNITNKSDCA----EA--	1458
CACNA1H	GNIVLICCAFFIIFGILGVQLFKGKFYYCE>G<PD---------TRNISTKAQCR----AA--	1476
CACNA1I	GNIVLICCAFFIIFGILGVQLFKGKFYHCL>G<VD---------TRNITNRSDCM----AA--	1352
CACNA1S	GNIVLVTTLLQFMFACIGVQLFKGKFFRCT>D<LSKMTEEECRGYYYVYKDGDPMQI-ELR--	986
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1365S	c.4094A>G	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm. 2013 10(11):1653-60. doi: 10.1016/j.hrthm.2013.08.022. 23973953