Paralogue Annotation for SCN5A residue 1476

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1476
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1476

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	Q1489H	Hemiplegic migraine 2	High	7	19332696
SCN1A	Q1489K	Hemiplegic migraine	High	7	16054936, 18621678, 18632931, 23398611
SCN2A	Q1479P	Epileptic encephalopathy, early infantile	High	7	26993267

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	MYIYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKLGGQDIFMTEEQKKYY------NAM--	1498
SCN1A	MYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--	1511
SCN2A	MYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--	1501
SCN3A	MYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--	1496
SCN4A	MYLYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKLGGKDIFMTEEQKKYY------NAM--	1323
SCN7A	MYCYFINFIIFGVFLPLSMLITVIIDNFNK>H<KIKLGGSNIFITVKQRKQY------RRL--	1221
SCN8A	MYIYFVIFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKFGGQDIFMTEEQKKYY------NAM--	1492
SCN9A	MYIYFVVFIIFGSFFTLNLFIGVIIDNFNQ>Q<KKKLGGQDIFMTEEQKKYY------NAM--	1474
SCN10A	MYLYFVIFIIFGGFFTLNLFVGVIIDNFNQ>Q<KKKLGGQDIFMTEEQKKYY------NAM--	1446
SCN11A	GYIYFVVFIIFGSFFTLNLFIGVIIDNFNQ>Q<QKKLGGQDIFMTEEQKKYY------NAM--	1336
CACNA1A	MSIFYVVYFVVFPFFFVNIFVALIIITFQE>Q<GDKM----MEEYSLEKNER------ACI--	1535
CACNA1B	LSIFYVVYFVVFPFFFVNIFVALIIITFQE>Q<GDKV----MSECSLEKNER------ACI--	1441
CACNA1C	ISIFFIIYIIIIAFFMMNIFVGFVIVTFQE>Q<GEQE----YKNCELDKNQR------QCV--	1190
CACNA1D	ISIFFIIYIIIVAFFMMNIFVGFVIVTFQE>Q<GEKE----YKNCELDKNQR------QCV--	1196
CACNA1E	MSIFYVVYFVVFPFFFVNIFVALIIITFQE>Q<GDKM----MEECSLEKNER------ACI--	1447
CACNA1F	ISVFFIVYIIIIAFFMMNIFVGFVIITFRA>Q<GEQE----YQNCELDKNQR------QCV--	1161
CACNA1G	MLLYFISFLLIVAFFVLNMFVGVVVENFHK>C<RQHQEEEEARRREEKRLRRLEKKRRNLML-	1572
CACNA1H	MLLYFISFLLIVSFFVLNMFVGVVVENFHK>C<RQHQEAEEARRREEK----------RLRRL	1581
CACNA1I	MLLYFISFLLIVSFFVLNMFVGVVVENFHK>C<RQHQEAEEARRREEK----------RLRRL	1457
CACNA1S	MAIFFIIYIILIAFFMMNIFVGFVIVTFQE>Q<GETE----YKNCELDKNQR------QCV--	1089
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1476R	c.4427A>G	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutation. Front Pharmacol. 2013 4:126. doi: 10.3389/fphar.2013.00126. 24098284