Paralogue Annotation for SCN5A residue 1206

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1206
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1206

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	Y1246C	Hemiplegic migraine	Medium	9	18644040, 19189122

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	CAVDTTQAP---GKVWWRLRKTCYHIVEHS>W<FETFIIFMILLSSGALAFEDIYLEERKTIK	1236
SCN1A	CQINVEEGR---GKQWWNLRRTCFRIVEHN>W<FETFIVFMILLSSGALAFEDIYIDQRKTIK	1249
SCN2A	CQISIEEGK---GKLWWNLRKTCYKIVEHN>W<FETFIVFMILLSSGALAFEDIYIEQRKTIK	1239
SCN3A	CQVSTEEGK---GKIWWNLRKTCYSIVEHN>W<FETFIVFMILLSSGALAFEDIYIEQRKTIK	1237
SCN4A	LYVDISQGR---GKKWWTLRRACFKIVEHN>W<FETFIVFMILLSSGALAFEDIYIEQRRVIR	1062
SCN7A	GQISGASKK---GKIWQNIRKTCCKIVENN>W<FKCFIGLVTLLSTGTLAFEDIYMDQRKTIK	965
SCN8A	CQVNIEEGL---GKSWWILRKTCFLIVEHN>W<FETFIIFMILLSSGALAFEDIYIEQRKTIR	1229
SCN9A	CQVNIESGK---GKIWWNIRKTCYKIVEHS>W<FESFIVLMILLSSGALAFEDIYIERKKTIK	1212
SCN10A	CKLDTTKSP---WDVGWQVRKTCYRIVEHS>W<FESFIIFMILLSSGSLAFEDYYLDQKPTVK	1183
SCN11A	CSVDKRKPP---WVIWWNLRKTCYQIVKHS>W<FESFIIFVILLSSGALIFEDVHLENQPKIQ	1087
CACNA1A	K-PMPPYSSMFILSTTNPLRRLCHYILNLR>Y<FEMCILMVIAMSSIALAAEDPV-QPNAPRN	1274
CACNA1B	R-PIVPYSSMFCLSPTNLLRRFCHYIVTMR>Y<FEVVILVVIALSSIALAAEDPV-RTDSPRN	1181
CACNA1C	V-PMPEASAFFIFSSNNRFRLQCHRIVNDT>I<FTNLILFFILLSSISLAAEDPV-QHTSFRN	930
CACNA1D	A-PIPEGSAFFILSKTNPIRVGCHKLINHH>I<FTNLILVFIMLSSAALAAEDPI-RSHSFRN	936
CACNA1E	K-AMVPHSSMFIFSTTNPIRRACHYIVNLR>Y<FEMCILLVIAASSIALAAEDPV-LTNSERN	1183
CACNA1F	V-PIPEGSAFFCLSQTNPLRKGCHTLIHHH>V<FTNLILVFIILSSVSLAAEDPI-RAHSFRN	901
CACNA1G	CLERDSWSAY-IFPPQSRFRLLCHRIITHK>M<FDHVVLVIIFLNCITIAMERPKIDPHSAER	1307
CACNA1H	CRSREAWALY-LFSPQNRFRVSCQKVITHK>M<FDHVVLVFIFLNCVTIALERPDIDPGSTER	1325
CACNA1I	CEVREDWSVY-LFSPENRFRVLCQTIIAHK>L<FDYVVLAFIFLNCITIALERPQIEAGSTER	1201
CACNA1S	V-PIPEASSFFIFSPTNKIRVLCHRIVNAT>W<FTNFILLFILLSSAALAAEDPI-RADSMRN	829
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W1206C	c.3618G>T	Other Cardiac Phenotype		rs199473203	SIFT: deleterious Polyphen: probably damaging
Reports		Other Cardiac Phenotype		Cardiac sodium channel gene variants and sudden cardiac death in women. Circulation. 2008 117(1):16-23. 18071069