Paralogue Annotation for SCN5A residue 1715

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1715
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1715

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	E1387D	Usher syndrome ?	Medium	9	22025579

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	---IDDMFNFQTFANSMLCLFQITTSAGWD>G<LLSPILNTGPPYCDPTLPN-S-NGSRGD--	1741
SCN1A	---IDDMFNFETFGNSMICLFQITTSAGWD>G<LLAPILNSKPPDCDPNKVN-PGSSVKGD--	1755
SCN2A	---IDDMFNFETFGNSMICLFQITTSAGWD>G<LLAPILNSGPPDCDPDKDH-PGSSVKGD--	1745
SCN3A	---IDDMFNFETFGNSMICLFQITTSAGWD>G<LLAPILNSAPPDCDPDTIH-PGSSVKGD--	1740
SCN4A	---IDDMFNFETFGNSIICLFEITTSAGWD>G<LLNPILNSGPPDCDPNLEN-PGTSVKGD--	1567
SCN7A	---INDVSNFETFGNSMLCLFQVAIFAGWD>G<MLDAIFNSKWSDCDPDKIN-PGTQVRGD--	1465
SCN8A	---IDDMFNFETFGNSMICLFQITTSAGWD>G<LLLPILN-RPPDCSLDKEH-PGSGFKGD--	1735
SCN9A	---INDMFNFETFGNSMICLFQITTSAGWD>G<LLAPILNSKPPDCDPKKVH-PGSSVEGD--	1718
SCN10A	---IDDMFNFQTFANSMLCLFQITTSAGWD>G<LLSPILNTGPPYCDPNLPN-S-NGTRGD--	1691
SCN11A	---IDDIFNFKTFASSMLCLFQISTSAGWD>S<LLSPMLRSKES-CN---------SSSEN--	1573
CACNA1A	EFQITEHNNFRTFFQALMLLFRSATGEAWH>N<IMLSCLSG--KPCDKNSGIL-----T-R--	1780
CACNA1B	---INRHNNFRTFLQALMLLFRSATGEAWH>E<IMLSCLSN--QACDE---Q------A-NAT	1678
CACNA1C	---INRNNNFQTFPQAVLLLFRCATGEAWQ>D<IMLACMPG--KKCAPESEP-SNSTEGETP-	1446
CACNA1D	---INRNNNFQTFPQAVLLLFRCATGEAWQ>E<IMLACLPG--KLCDPESDY--NPGE-EYT-	1454
CACNA1E	---INRHNNFRSFFGSLMLLFRSATGEAWQ>E<IMLSCLGE--KGCEPDTTAPSGQNEN-E--	1692
CACNA1F	---INRNNNFQTFPQAVLLLFRCATGEAWQ>E<IMLASLPG--NRCDPESDF--GPGE-EFT-	1411
CACNA1G	CEGLGRHATFRNFGMAFLTLFRVSTGDNWN>G<IMKDTLRD----CDQEST-----C------	1821
CACNA1H	CEGLSRHATFSNFGMAFLTLFRVSTGDNWN>G<IMKDTLRE----CSREDKH----C---LS-	1830
CACNA1I	CEGMSRHATFENFGMAFLTLFQVSTGDNWN>G<IMKDTLRD----CTHDERS----C---LS-	1700
CACNA1S	---INRNNNFQTFPQAVLLLFRCATGEAWQ>E<ILLACSYG--KLCDPESDY--APGE-EYT-	1351
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gly1715Ala	c.5144G>C	Unknown			SIFT: Polyphen: