Paralogue Annotation for SCN5A residue 1481

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1481
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1481

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN4A	G1306E	Myotonia	High	4	8308722, 20713951, 25088311, 25311598
SCN4A	G1306A	Myotonia	High	4	8308722, 25525159, 26885337
SCN4A	G1306V	Paramyotonia congenita	High	4

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	VIFIIFGSFFTLNLFIGVIIDNFNQQKKKL>G<GQDIFMTEEQKKYY------NAM---KK-L	1501
SCN1A	VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF>G<GQDIFMTEEQKKYY------NAM---KK-L	1514
SCN2A	VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF>G<GQDIFMTEEQKKYY------NAM---KK-L	1504
SCN3A	VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF>G<GQDIFMTEEQKKYY------NAM---KK-L	1499
SCN4A	VIFIIFGSFFTLNLFIGVIIDNFNQQKKKL>G<GKDIFMTEEQKKYY------NAM---KK-L	1326
SCN7A	INFIIFGVFLPLSMLITVIIDNFNKHKIKL>G<GSNIFITVKQRKQY------RRL---KK-L	1224
SCN8A	VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF>G<GQDIFMTEEQKKYY------NAM---KK-L	1495
SCN9A	VVFIIFGSFFTLNLFIGVIIDNFNQQKKKL>G<GQDIFMTEEQKKYY------NAM---KK-L	1477
SCN10A	VIFIIFGGFFTLNLFVGVIIDNFNQQKKKL>G<GQDIFMTEEQKKYY------NAM---KK-L	1449
SCN11A	VVFIIFGSFFTLNLFIGVIIDNFNQQQKKL>G<GQDIFMTEEQKKYY------NAM---KK-L	1339
CACNA1A	VVYFVVFPFFFVNIFVALIIITFQEQGDKM>-<---MEEYSLEKNER------ACI---DFAI	1539
CACNA1B	VVYFVVFPFFFVNIFVALIIITFQEQGDKV>-<---MSECSLEKNER------ACI---DFAI	1445
CACNA1C	IIYIIIIAFFMMNIFVGFVIVTFQEQGEQE>-<---YKNCELDKNQR------QCV---EYAL	1194
CACNA1D	IIYIIIVAFFMMNIFVGFVIVTFQEQGEKE>-<---YKNCELDKNQR------QCV---EYAL	1200
CACNA1E	VVYFVVFPFFFVNIFVALIIITFQEQGDKM>-<---MEECSLEKNER------ACI---DFAI	1451
CACNA1F	IVYIIIIAFFMMNIFVGFVIITFRAQGEQE>-<---YQNCELDKNQR------QCV---EYAL	1165
CACNA1G	ISFLLIVAFFVLNMFVGVVVENFHKCRQHQ>E<EEEARRREEKRLRRLEKKRRNLML--DDVI	1576
CACNA1H	ISFLLIVSFFVLNMFVGVVVENFHKCRQHQ>E<AEEARRREEK----------RLRRLERRRR	1586
CACNA1I	ISFLLIVSFFVLNMFVGVVVENFHKCRQHQ>E<AEEARRREEK----------RLRRLEKKRR	1462
CACNA1S	IIYIILIAFFMMNIFVGFVIVTFQEQGETE>-<---YKNCELDKNQR------QCV---QYAL	1093
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1481E	c.4442G>A	Inherited Arrhythmia	LQTS	rs199473257	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085