Paralogue Annotation for SCN5A residue 1382

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1382
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1382

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T1394I	Dravet syndrome C ?	Medium	4	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	NLFAGKFGRCINQTEGDL-P-LNYTIVNNK>S<QCESLNLTGE--LYWTKVKVNFDNVGAGYL	1410
SCN1A	NLFAGKFYHCINTTTGDR---FDIEDVNNH>T<DCLKLIERNET-ARWKNVKVNFDNVGFGYL	1423
SCN2A	NLFAGKFYHCINYTTGEM---FDVSVVNNY>S<ECKALIESNQT-ARWKNVKVNFDNVGLGYL	1413
SCN3A	NLFAGKFYHCVNMTTGNM---FDISDVNNL>S<DCQALGK--Q--ARWKNVKVNFDNVGAGYL	1408
SCN4A	NLFAGKFYYCINTTTSER---FDISEVNNK>S<ECESLMHTGQ--VRWLNVKVNYDNVGLGYL	1235
SCN7A	DLFAGRFYECIDPTSGER---FPSSEVMNK>S<RCESLLFNES--MLWENAKMNFDNVGNGFL	1133
SCN8A	NLFAGKYHYCFNETSEIR---FEIEDVNNK>T<ECEKLMEGNNTEIRWKNVKINFDNVGAGYL	1404
SCN9A	NLFAGKFYECINTTDGSR---FPASQVPNR>S<ECFALMNVSQN-VRWKNLKVNFDNVGLGYL	1386
SCN10A	NLFAGKFWRCINYTDGEF-SLVPLSIVNNK>S<DCKIQNSTGS--FFWVNVKVNFDNVAMGYL	1358
SCN11A	YFFSGKFGKCINGTDSVI----NYTIITNK>S<QCESGN------FSWINQKVNFDNVGNAYL	1248
CACNA1A	QLFKGKFFHCTDESKEFEKDCRGKYLLYEK>N<EVK----AR--DREWKKYEFHYDNVLWALL	1451
CACNA1B	QLFKGKFFYCTDESKELERDCRGQYLDYEK>E<EVE----AQ--PRQWKKYDFHYDNVLWALL	1357
CACNA1C	QLFKGKLYTCSDSSKQTEAECKGNYITYKD>G<EVDHP-IIQ--PRSWENSKFDFDNVLAAMM	1106
CACNA1D	QLFKGKFYRCTDEAKSNPEECRGLFILYKD>G<DVDSP-VVR--ERIWQNSDFNFDNVLSAMM	1112
CACNA1E	QLFKGKFFYCTDSSKDTEKECIGNYVDHEK>N<KME----VK--GREWKRHEFHYDNIIWALL	1363
CACNA1F	QLFKGKFYTCTDEAKHTPQECKGSFLVYPD>G<DVSRP-LVR--ERLWVNSDFNFDNVLSAMM	1077
CACNA1G	QLFKGKFFVCQGED---------TRNITNK>S<DCA----EA--SYRWVRHKYNFDNLGQALM	1477
CACNA1H	QLFKGKFYYCEGPD---------TRNISTK>A<QCR----AA--HYRWVRRKYNFDNLGQALM	1495
CACNA1I	QLFKGKFYHCLGVD---------TRNITNR>S<DCM----AA--NYRWVHHKYNFDNLGQALM	1371
CACNA1S	QLFKGKFFRCTDLSKMTEEECRGYYYVYKD>G<DPMQI-ELR--HREWVHSDFHFDNVLSAMM	1005
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1382I	c.4145G>T	Inherited Arrhythmia	BrS	rs199473608	SIFT: deleterious Polyphen: possibly damaging
Reports		Inherited Arrhythmia	BrS	Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943
		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
		Inherited Arrhythmia	BrS	Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861