Paralogue Annotation for SCN5A residue 1285

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1285
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1285

No paralogue variants have been mapped to residue 1285 for SCN5A.

SCN5A	VAYGF----KKYFTNAWCWLDFLIVDVSLV>S<LVAN-T----LGFAEMGPIKSLRTLRALRP	1310
SCN1A	VAYGY----QTYFTNAWCWLDFLIVDVSLV>S<LTAN-A----LGYSELGAIKSLRTLRALRP	1323
SCN2A	VAYGF----QVYFTNAWCWLDFLIVDVSLV>S<LTAN-A----LGYSELGAIKSLRTLRALRP	1313
SCN3A	VAYGF----QTYFTNAWCWLDFLIVDVSLV>S<LVAN-A----LGYSELGAIKSLRTLRALRP	1311
SCN4A	VAYGF----KVYFTNAWCWLDFLIVDVSII>S<LVAN-W----LGYSELGPIKSLRTLRALRP	1136
SCN7A	MAYGF----KAYFSNGWYRLDFVVVIVFCL>S<LIGK-T----RE--E---LKPLISMKFLRP	1034
SCN8A	TAYGF----VKFFTNAWCWLDFLIVAVSLV>S<LIAN-A----LGYSELGAIKSLRTLRALRP	1303
SCN9A	IAYGY----KTYFTNAWCWLDFLIVDVSLV>T<LVAN-T----LGYSDLGPIKSLRTLRALRP	1286
SCN10A	VAYGF----KKYFTNAWCWLDFLIVNISLI>S<LTAK-I----LEYSEVAPIKALRTLRALRP	1257
SCN11A	VAFGF----GKYFTSAWCCLDFIIVIVSVT>T<LI---------N---LMELKSFRTLRALRP	1154
CACNA1A	IDLGLVLHQGAYFRDLWNILDFIVVSGALV>A<FAFTGN----SKGKDINTIKSLRVLRVLRP	1353
CACNA1B	IDLGLLLHPGAYFRDLWNILDFIVVSGALV>A<FAFS-G----SKGKDINTIKSLRVLRVLRP	1259
CACNA1C	TAYGAFLHKGSFCRNYFNILDLLVVSVSLI>S<F----G----IQSSAINVVKILRVLRVLRP	1005
CACNA1D	TTFGAFLHKGAFCRNYFNLLDMLVVGVSLV>S<F----G----IQSSAISVVKILRVLRVLRP	1011
CACNA1E	IDQGLILQDGSYFRDLWNILDFVVVVGALV>A<FALANA-LGTNKGRDIKTIKSLRVLRVLRP	1265
CACNA1F	TVFGAFLHRGSFCRSWFNMLDLLVVSVSLI>S<F----G----IHSSAISVVKILRVLRVLRP	976
CACNA1G	VALGWCFGEQAYLRSSWNVLDGLLVLISVI>D<ILVS-MVSD-SGTKILGMLRVLRLLRTLRP	1388
CACNA1H	VALGLLSGEHAYLQSSWNLLDGLLVLVSLV>D<IVVA-MASA-GGAKILGVLRVLRLLRTLRP	1406
CACNA1I	VSLGLYFGEQAYLRSSWNVLDGFLVFVSII>D<IVVS-LASA-GGAKILGVLRVLRLLRTLRP	1282
CACNA1S	TTYGAFLHKGSFCRNYFNMLDLLVVAVSLI>S<M----G----LESSAISVVKILRVLRVLRP	904
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1285G	c.3853A>G	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775