Paralogue Annotation for SCN5A residue 1706

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1706
Reference Amino Acid: Q - Glutamine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1706

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	R1752W	Episodic ataxia 2	Medium	9	19864665

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-----IDDMFNFQTFANSMLCLF>Q<ITTSAGWDGLLSPILNTGPPYCDPTLPN-S	1735
SCN1A	----EVG-----IDDMFNFETFGNSMICLF>Q<ITTSAGWDGLLAPILNSKPPDCDPNKVN-P	1748
SCN2A	----EVG-----IDDMFNFETFGNSMICLF>Q<ITTSAGWDGLLAPILNSGPPDCDPDKDH-P	1738
SCN3A	----EAG-----IDDMFNFETFGNSMICLF>Q<ITTSAGWDGLLAPILNSAPPDCDPDTIH-P	1733
SCN4A	----ESG-----IDDMFNFETFGNSIICLF>E<ITTSAGWDGLLNPILNSGPPDCDPNLEN-P	1560
SCN7A	----EAG-----INDVSNFETFGNSMLCLF>Q<VAIFAGWDGMLDAIFNSKWSDCDPDKIN-P	1458
SCN8A	----EAG-----IDDMFNFETFGNSMICLF>Q<ITTSAGWDGLLLPILN-RPPDCSLDKEH-P	1728
SCN9A	----EDG-----INDMFNFETFGNSMICLF>Q<ITTSAGWDGLLAPILNSKPPDCDPKKVH-P	1711
SCN10A	----EAG-----IDDMFNFQTFANSMLCLF>Q<ITTSAGWDGLLSPILNTGPPYCDPNLPN-S	1685
SCN11A	----ESG-----IDDIFNFKTFASSMLCLF>Q<ISTSAGWDSLLSPMLRSKES-CN-------	1568
CACNA1A	VEDEDSDEDEFQITEHNNFRTFFQALMLLF>R<SATGEAWHNIMLSCLSG--KPCDKNSGIL-	1778
CACNA1B	D---DTS-----INRHNNFRTFLQALMLLF>R<SATGEAWHEIMLSCLSN--QACDE---Q--	1674
CACNA1C	D---TTE-----INRNNNFQTFPQAVLLLF>R<CATGEAWQDIMLACMPG--KKCAPESEP-S	1438
CACNA1D	D---NNQ-----INRNNNFQTFPQAVLLLF>R<CATGEAWQEIMLACLPG--KLCDPESDY--	1447
CACNA1E	E---ESH-----INRHNNFRSFFGSLMLLF>R<SATGEAWQEIMLSCLGE--KGCEPDTTAPS	1686
CACNA1F	D---GTQ-----INRNNNFQTFPQAVLLLF>R<CATGEAWQEIMLASLPG--NRCDPESDF--	1404
CACNA1G	ET---HP--CEGLGRHATFRNFGMAFLTLF>R<VSTGDNWNGIMKDTLRD----CDQEST---	1820
CACNA1H	ED---NP--CEGLSRHATFSNFGMAFLTLF>R<VSTGDNWNGIMKDTLRE----CSREDKH--	1827
CACNA1I	DE---NP--CEGMSRHATFENFGMAFLTLF>Q<VSTGDNWNGIMKDTLRD----CTHDERS--	1697
CACNA1S	D---GTQ-----INRNNNFQTFPQAVLLLF>R<CATGEAWQEILLACSYG--KLCDPESDY--	1344
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1706H	c.5118G>C	Inherited Arrhythmia	BrS	rs199473296	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	BrS	Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465