Paralogue Annotation for SCN5A residue 1489

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1489
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1489

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN8A	E1483K	Infantile seizures, benign and paroxysmal dyskines	High	5	26677014

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	FFTLNLFIGVIIDNFNQQKKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1504
SCN1A	FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1517
SCN2A	FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1507
SCN3A	FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1502
SCN4A	FFTLNLFIGVIIDNFNQQKKKLGGKDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1329
SCN7A	FLPLSMLITVIIDNFNKHKIKLGGSNIFIT>V<KQRKQY------RRL---KK-L----M-YE	1227
SCN8A	FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1498
SCN9A	FFTLNLFIGVIIDNFNQQKKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1480
SCN10A	FFTLNLFVGVIIDNFNQQKKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1452
SCN11A	FFTLNLFIGVIIDNFNQQQKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK	1342
CACNA1A	FFFVNIFVALIIITFQEQGDKM----MEEY>S<LEKNER------ACI---DFAI------SA	1541
CACNA1B	FFFVNIFVALIIITFQEQGDKV----MSEC>S<LEKNER------ACI---DFAI------SA	1447
CACNA1C	FFMMNIFVGFVIVTFQEQGEQE----YKNC>E<LDKNQR------QCV---EYAL------KA	1196
CACNA1D	FFMMNIFVGFVIVTFQEQGEKE----YKNC>E<LDKNQR------QCV---EYAL------KA	1202
CACNA1E	FFFVNIFVALIIITFQEQGDKM----MEEC>S<LEKNER------ACI---DFAI------SA	1453
CACNA1F	FFMMNIFVGFVIITFRAQGEQE----YQNC>E<LDKNQR------QCV---EYAL------KA	1167
CACNA1G	FFVLNMFVGVVVENFHKCRQHQEEEEARRR>E<EKRLRRLEKKRRNLML--DDVI-----ASG	1579
CACNA1H	FFVLNMFVGVVVENFHKCRQHQEAEEARRR>E<EK----------RLRRLERRRRSTFPSPEA	1594
CACNA1I	FFVLNMFVGVVVENFHKCRQHQEAEEARRR>E<EK----------RLRRLEKKRR------KA	1464
CACNA1S	FFMMNIFVGFVIVTFQEQGETE----YKNC>E<LDKNQR------QCV---QYAL------KA	1095
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1489D	c.4467G>T	Inherited Arrhythmia	LQTS	rs199473616	SIFT: deleterious Polyphen: probably damaging
Reports		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