Paralogue Annotation for SCN5A residue 1539

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1539
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1539

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	C1552Y	Dravet syndrome	High	9	26438699

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	PIPRPLNKYQGFIFDIVTKQAFDVTIMFLI>C<LNMVTMMVETDDQSPEKINILAKINLLFVA	1569
SCN1A	PIPRPGNKFQGMVFDFVTRQVFDISIMILI>C<LNMVTMMVETDDQSEYVTTILSRINLVFIV	1582
SCN2A	PIPRPANKFQGMVFDFVTKQVFDISIMILI>C<LNMVTMMVETDDQSQEMTNILYWINLVFIV	1572
SCN3A	PIPRPANKFQGMVFDFVTRQVFDISIMILI>C<LNMVTMMVETDDQGKYMTLVLSRINLVFIV	1567
SCN4A	PIPRPQNKIQGMVYDLVTKQAFDITIMILI>C<LNMVTMMVETDNQSQLKVDILYNINMIFII	1394
SCN7A	PVPRPLNKLQGFIFDVVTSQAFNVIVMVLI>C<FQAIAMMIDTDVQSLQMSIALYWINSIFVM	1292
SCN8A	PIPRPLNKIQGIVFDFVTQQAFDIVIMMLI>C<LNMVTMMVETDTQSKQMENILYWINLVFVI	1563
SCN9A	PIPRPGNKIQGCIFDLVTNQAFDISIMVLI>C<LNMVTMMVEKEGQSQHMTEVLYWINVVFII	1545
SCN10A	PIPRPLNKFQGFVFDIVTRQAFDITIMVLI>C<LNMITMMVETDDQSEEKTKILGKINQFFVA	1517
SCN11A	PIPRPLNKCQGLVFDIVTSQIFDIIIISLI>I<LNMISMMAESYNQPKAMKSILDHLNWVFVV	1407
CACNA1A	HMPQNKQSFQYRMWQFVVSPPFEYTIMAMI>A<LNTIVLMMKFYGASVAYENALRVFNIVFTS	1607
CACNA1B	YMPQNRQSFQYKTWTFVVSPPFEYFIMAMI>A<LNTVVLMMKFYDAPYEYELMLKCLNIVFTS	1513
CACNA1C	YIPK--NQHQYKVWYVVNSTYFEYLMFVLI>L<LNTICLAMQHYGQSCLFKIAMNILNMLFTG	1260
CACNA1D	YIPK--NPYQYKFWYVVNSSPFEYMMFVLI>M<LNTLCLAMQHYEQSKMFNDAMDILNMVFTG	1266
CACNA1E	YMPQNRHTFQYRVWHFVVSPSFEYTIMAMI>A<LNTVVLMMKYYSAPCTYELALKYLNIAFTM	1519
CACNA1F	YIPK--NPHQYRVWATVNSAAFEYLMFLLI>L<LNTVALAMQHYEQTAPFNYAMDILNMVFTG	1231
CACNA1G	PYYSDYSRFRLLVHHLCTSHYLDLFITGVI>G<LNVVTMAMEHYQQPQILDEALKICNYIFTV	1652
CACNA1H	PYYADYSPTRRSIHSLCTSHYLDLFITFII>C<VNVITMSMEHYNQPKSLDEALKYCNYVFTI	1658
CACNA1I	PYYATYCHTRLLIHSMCTSHYLDIFITFII>C<LNVVTMSLEHYNQPTSLETALKYCNYMFTT	1528
CACNA1S	YIPK--NPYQYQVWYIVTSSYFEYLMFALI>M<LNTICLGMQHYNQSEQMNHISDILNVAFTI	1159
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C1539Y	c.4616G>A	Putative Benign			SIFT: Polyphen: