Paralogue Annotation for SCN5A residue 1410

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1410
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1410

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L1423F	Dravet syndrome C ?	High	9	21248271

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	SQCESLNLTGE--LYWTKVKVNFDNVGAGY>L<ALLQVATFKGWMDIMYAAVDSRGYEEQPQW	1440
SCN1A	TDCLKLIERNET-ARWKNVKVNFDNVGFGY>L<SLLQVATFKGWMDIMYAAVDSRNVELQPKY	1453
SCN2A	SECKALIESNQT-ARWKNVKVNFDNVGLGY>L<SLLQVATFKGWMDIMYAAVDSRNVELQPKY	1443
SCN3A	SDCQALGK--Q--ARWKNVKVNFDNVGAGY>L<ALLQVATFKGWMDIMYAAVDSRDVKLQPVY	1438
SCN4A	SECESLMHTGQ--VRWLNVKVNYDNVGLGY>L<SLLQVATFKGWMDIMYAAVDSREKEEQPQY	1265
SCN7A	SRCESLLFNES--MLWENAKMNFDNVGNGF>L<SLLQVATFNGWITIMNSAIDSVAVNIQPHF	1163
SCN8A	TECEKLMEGNNTEIRWKNVKINFDNVGAGY>L<ALLQVATFKGWMDIMYAAVDSRKPDEQPKY	1434
SCN9A	SECFALMNVSQN-VRWKNLKVNFDNVGLGY>L<SLLQVATFKGWTIIMYAAVDSVNVDKQPKY	1416
SCN10A	SDCKIQNSTGS--FFWVNVKVNFDNVAMGY>L<ALLQVATFKGWMDIMYAAVDSREVNMQPKW	1388
SCN11A	SQCESGN------FSWINQKVNFDNVGNAY>L<ALLQVATFKGWMDIIYAAVDSTEKEQQPEF	1278
CACNA1A	NEVK----AR--DREWKKYEFHYDNVLWAL>L<TLFTVSTGEGWPQVLKHSVDATFENQGPSP	1481
CACNA1B	EEVE----AQ--PRQWKKYDFHYDNVLWAL>L<TLFTVSTGEGWPMVLKHSVDATYEEQGPSP	1387
CACNA1C	GEVDHP-IIQ--PRSWENSKFDFDNVLAAM>M<ALFTVSTFEGWPELLYRSIDSHTEDKGPIY	1136
CACNA1D	GDVDSP-VVR--ERIWQNSDFNFDNVLSAM>M<ALFTVSTFEGWPALLYKAIDSNGENIGPIY	1142
CACNA1E	NKME----VK--GREWKRHEFHYDNIIWAL>L<TLFTVSTGEGWPQVLQHSVDVTEEDRGPSR	1393
CACNA1F	GDVSRP-LVR--ERLWVNSDFNFDNVLSAM>M<ALFTVSTFEGWPALLYKAIDAYAEDHGPIY	1107
CACNA1G	SDCA----EA--SYRWVRHKYNFDNLGQAL>M<SLFVLASKDGWVDIMYDGLDAVGVDQQPIM	1507
CACNA1H	AQCR----AA--HYRWVRRKYNFDNLGQAL>M<SLFVLSSKDGWVNIMYDGLDAVGVDQQPVQ	1525
CACNA1I	SDCM----AA--NYRWVHHKYNFDNLGQAL>M<SLFVLASKDGWVNIMYNGLDAVAVDQQPVT	1401
CACNA1S	GDPMQI-ELR--HREWVHSDFHFDNVLSAM>M<SLFTVSTFEGWPQLLYKAIDSNAEDVGPIY	1035
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Leu1410Pro	c.4229T>C	Unknown			SIFT: Polyphen: