Paralogue Annotation for SCN5A residue 1560

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1560
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1560

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	L1563V	Neonatal-infantile seizures	High	9	12243921, 18479388

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	FDVTIMFLICLNMVTMMVETDDQSPEKINI>L<AKINLLFVAIFTGECIVKLAALR-HYYFTN	1589
SCN1A	FDISIMILICLNMVTMMVETDDQSEYVTTI>L<SRINLVFIVLFTGECVLKLISLR-HYYFTI	1602
SCN2A	FDISIMILICLNMVTMMVETDDQSQEMTNI>L<YWINLVFIVLFTGECVLKLISLR-YYYFTI	1592
SCN3A	FDISIMILICLNMVTMMVETDDQGKYMTLV>L<SRINLVFIVLFTGEFVLKLVSLR-HYYFTI	1587
SCN4A	FDITIMILICLNMVTMMVETDNQSQLKVDI>L<YNINMIFIIIFTGECVLKMLALR-QYYFTV	1414
SCN7A	FNVIVMVLICFQAIAMMIDTDVQSLQMSIA>L<YWINSIFVMLYTMECILKLIAFR-CFYFTI	1312
SCN8A	FDIVIMMLICLNMVTMMVETDTQSKQMENI>L<YWINLVFVIFFTCECVLKMFALR-HYYFTI	1583
SCN9A	FDISIMVLICLNMVTMMVEKEGQSQHMTEV>L<YWINVVFIILFTGECVLKLISLR-HYYFTV	1565
SCN10A	FDITIMVLICLNMITMMVETDDQSEEKTKI>L<GKINQFFVAVFTGECVMKMFALR-QYYFTN	1537
SCN11A	FDIIIISLIILNMISMMAESYNQPKAMKSI>L<DHLNWVFVVIFTLECLIKIFALR-QYYFTN	1427
CACNA1A	FEYTIMAMIALNTIVLMMKFYGASVAYENA>L<RVFNIVFTSLFSLECVLKVMAFGILNYFRD	1628
CACNA1B	FEYFIMAMIALNTVVLMMKFYDAPYEYELM>L<KCLNIVFTSMFSMECVLKIIAFGVLNYFRD	1534
CACNA1C	FEYLMFVLILLNTICLAMQHYGQSCLFKIA>M<NILNMLFTGLFTVEMILKLIAFKPKHYFCD	1281
CACNA1D	FEYMMFVLIMLNTLCLAMQHYEQSKMFNDA>M<DILNMVFTGVFTVEMVLKVIAFKPKGYFSD	1287
CACNA1E	FEYTIMAMIALNTVVLMMKYYSAPCTYELA>L<KYLNIAFTMVFSLECVLKVIAFGFLNYFRD	1540
CACNA1F	FEYLMFLLILLNTVALAMQHYEQTAPFNYA>M<DILNMVFTGLFTIEMVLKIIAFKPKHYFTD	1252
CACNA1G	LDLFITGVIGLNVVTMAMEHYQQPQILDEA>L<KICNYIFTVIFVLESVFKLVAFGFRRFFQD	1673
CACNA1H	LDLFITFIICVNVITMSMEHYNQPKSLDEA>L<KYCNYVFTIVFVFEAALKLVAFGFRRFFKD	1679
CACNA1I	LDIFITFIICLNVVTMSLEHYNQPTSLETA>L<KYCNYMFTTVFVLEAVLKLVAFGLRRFFKD	1549
CACNA1S	FEYLMFALIMLNTICLGMQHYNQSEQMNHI>S<DILNVAFTIIFTLEMILKLMAFKARGYFGD	1180
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1560F	c.4680G>C	Inherited Arrhythmia	LQTS	rs199473619	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