Paralogue Annotation for SCN5A residue 1708

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1708
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1708

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T1721R	Myoclonic epilepsy of infancy	High	9	17347258

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	--EAG-----IDDMFNFQTFANSMLCLFQI>T<TSAGWDGLLSPILNTGPPYCDPTLPN-S-N	1736
SCN1A	--EVG-----IDDMFNFETFGNSMICLFQI>T<TSAGWDGLLAPILNSKPPDCDPNKVN-PGS	1750
SCN2A	--EVG-----IDDMFNFETFGNSMICLFQI>T<TSAGWDGLLAPILNSGPPDCDPDKDH-PGS	1740
SCN3A	--EAG-----IDDMFNFETFGNSMICLFQI>T<TSAGWDGLLAPILNSAPPDCDPDTIH-PGS	1735
SCN4A	--ESG-----IDDMFNFETFGNSIICLFEI>T<TSAGWDGLLNPILNSGPPDCDPNLEN-PGT	1562
SCN7A	--EAG-----INDVSNFETFGNSMLCLFQV>A<IFAGWDGMLDAIFNSKWSDCDPDKIN-PGT	1460
SCN8A	--EAG-----IDDMFNFETFGNSMICLFQI>T<TSAGWDGLLLPILN-RPPDCSLDKEH-PGS	1730
SCN9A	--EDG-----INDMFNFETFGNSMICLFQI>T<TSAGWDGLLAPILNSKPPDCDPKKVH-PGS	1713
SCN10A	--EAG-----IDDMFNFQTFANSMLCLFQI>T<TSAGWDGLLSPILNTGPPYCDPNLPN-S-N	1686
SCN11A	--ESG-----IDDIFNFKTFASSMLCLFQI>S<TSAGWDSLLSPMLRSKES-CN---------	1568
CACNA1A	DEDSDEDEFQITEHNNFRTFFQALMLLFRS>A<TGEAWHNIMLSCLSG--KPCDKNSGIL---	1778
CACNA1B	--DTS-----INRHNNFRTFLQALMLLFRS>A<TGEAWHEIMLSCLSN--QACDE---Q----	1674
CACNA1C	--TTE-----INRNNNFQTFPQAVLLLFRC>A<TGEAWQDIMLACMPG--KKCAPESEP-SNS	1440
CACNA1D	--NNQ-----INRNNNFQTFPQAVLLLFRC>A<TGEAWQEIMLACLPG--KLCDPESDY--NP	1449
CACNA1E	--ESH-----INRHNNFRSFFGSLMLLFRS>A<TGEAWQEIMLSCLGE--KGCEPDTTAPSGQ	1688
CACNA1F	--GTQ-----INRNNNFQTFPQAVLLLFRC>A<TGEAWQEIMLASLPG--NRCDPESDF--GP	1406
CACNA1G	---HP--CEGLGRHATFRNFGMAFLTLFRV>S<TGDNWNGIMKDTLRD----CDQEST-----	1820
CACNA1H	---NP--CEGLSRHATFSNFGMAFLTLFRV>S<TGDNWNGIMKDTLRE----CSREDKH----	1827
CACNA1I	---NP--CEGMSRHATFENFGMAFLTLFQV>S<TGDNWNGIMKDTLRD----CTHDERS----	1697
CACNA1S	--GTQ-----INRNNNFQTFPQAVLLLFRC>A<TGEAWQEILLACSYG--KLCDPESDY--AP	1346
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1708N	c.5123C>A	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. Circ Cardiovasc Genet. 2015 8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. 25904541