Paralogue Annotation for SCN5A residue 1598

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1598
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1598

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	V1611F	Myoclonic epilepsy of infancy	High	9	12566275, 16210358
SCN8A	V1592L	Epileptic encephalopathy	High	9	25568300

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	AIFTGECIVKLAALR-HYYFTNSWNIFDFV>V<VILSIVGTVLSDIIQ---------------	1613
SCN1A	VLFTGECVLKLISLR-HYYFTIGWNIFDFV>V<VILSIVGMFLAELIE---------------	1626
SCN2A	VLFTGECVLKLISLR-YYYFTIGWNIFDFV>V<VILSIVGMFLAELIE---------------	1616
SCN3A	VLFTGEFVLKLVSLR-HYYFTIGWNIFDFV>V<VILSIVGMFLAEMIE---------------	1611
SCN4A	IIFTGECVLKMLALR-QYYFTVGWNIFDFV>V<VILSIVGLALSDLIQ---------------	1438
SCN7A	MLYTMECILKLIAFR-CFYFTIAWNIFDFM>V<VIFSITGLCLPMTVG---------------	1336
SCN8A	IFFTCECVLKMFALR-HYYFTIGWNIFDFV>V<VILSIVGMFLADIIE---------------	1607
SCN9A	ILFTGECVLKLISLR-HYYFTVGWNIFDFV>V<VIISIVGMFLADLIE---------------	1589
SCN10A	AVFTGECVMKMFALR-QYYFTNGWNVFDFI>V<VVLSIASLIFSAILKS--------------	1562
SCN11A	VIFTLECLIKIFALR-QYYFTNGWNLFDCV>V<VLLSIVSTMISTLENQ--------------	1452
CACNA1A	SLFSLECVLKVMAFGILNYFRDAWNIFDFV>T<VLGSITDILVTEFGNN--------------	1653
CACNA1B	SMFSMECVLKIIAFGVLNYFRDAWNVFDFV>T<VLGSITDILVTEIAET--------------	1559
CACNA1C	GLFTVEMILKLIAFKPKHYFCDAWNTFDAL>I<VVGSIVDIAITEVNPAE----HTQ----CS	1312
CACNA1D	GVFTVEMVLKVIAFKPKGYFSDAWNTFDSL>I<VIGSIIDVALSEADPTE----SENVPVPTA	1322
CACNA1E	MVFSLECVLKVIAFGFLNYFRDTWNIFDFI>T<VIGSITEIILTDSKLV--------------	1565
CACNA1F	GLFTIEMVLKIIAFKPKHYFTDAWNTFDAL>I<VVGSIVDIAVTEVNNGG----HLG----E-	1282
CACNA1G	VIFVLESVFKLVAFGFRRFFQDRWNQLDLA>I<VLLSIMGITLEEIEVN--------------	1698
CACNA1H	IVFVFEAALKLVAFGFRRFFKDRWNQLDLA>I<VLLSLMGITLEEIEMS--------------	1704
CACNA1I	TVFVLEAVLKLVAFGLRRFFKDRWNQLDLA>I<VLLSVMGITLEEIEIN--------------	1574
CACNA1S	IIFTLEMILKLMAFKARGYFGDPWNVFDFL>I<VIGSIIDVILSEIDTFLASSGGLYCLGGGC	1219
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1598A	c.4793T>C	Putative Benign			SIFT: Polyphen: