Paralogue Annotation for SCN5A residue 1247

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1247
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1247

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T1260P	Dravet syndrome	High	9	20431604

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	LSSGALAFEDIYLEERKTIKVLLEYADKMF>T<YVFVLEMLLKWVAYGF----KKYFTNAWCW	1273
SCN1A	LSSGALAFEDIYIDQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGY----QTYFTNAWCW	1286
SCN2A	LSSGALAFEDIYIEQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGF----QVYFTNAWCW	1276
SCN3A	LSSGALAFEDIYIEQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGF----QTYFTNAWCW	1274
SCN4A	LSSGALAFEDIYIEQRRVIRTILEYADKVF>T<YIFIMEMLLKWVAYGF----KVYFTNAWCW	1099
SCN7A	LSTGTLAFEDIYMDQRKTIKILLEYADMIF>T<YIFILEMLLKWMAYGF----KAYFSNGWYR	1002
SCN8A	LSSGALAFEDIYIEQRKTIRTILEYADKVF>T<YIFILEMLLKWTAYGF----VKFFTNAWCW	1266
SCN9A	LSSGALAFEDIYIERKKTIKIILEYADKIF>T<YIFILEMLLKWIAYGY----KTYFTNAWCW	1249
SCN10A	LSSGSLAFEDYYLDQKPTVKALLEYTDRVF>T<FIFVFEMLLKWVAYGF----KKYFTNAWCW	1220
SCN11A	LSSGALIFEDVHLENQPKIQELLNCTDIIF>T<HIFILEMVLKWVAFGF----GKYFTSAWCC	1124
CACNA1A	MSSIALAAEDPV-QPNAPRNNVLRYFDYVF>T<GVFTFEMVIKMIDLGLVLHQGAYFRDLWNI	1315
CACNA1B	LSSIALAAEDPV-RTDSPRNNALKYLDYIF>T<GVFTFEMVIKMIDLGLLLHPGAYFRDLWNI	1222
CACNA1C	LSSISLAAEDPV-QHTSFRNHILFYFDIVF>T<TIFTIEIALKMTAYGAFLHKGSFCRNYFNI	971
CACNA1D	LSSAALAAEDPI-RSHSFRNTILGYFDYAF>T<AIFTVEILLKMTTFGAFLHKGAFCRNYFNL	977
CACNA1E	ASSIALAAEDPV-LTNSERNKVLRYFDYVF>T<GVFTFEMVIKMIDQGLILQDGSYFRDLWNI	1224
CACNA1F	LSSVSLAAEDPI-RAHSFRNHILGYFDYAF>T<SIFTVEILLKMTVFGAFLHRGSFCRSWFNM	942
CACNA1G	LNCITIAMERPKIDPHSAERIFLTLSNYIF>T<AVFLAEMTVKVVALGWCFGEQAYLRSSWNV	1348
CACNA1H	LNCVTIALERPDIDPGSTERVFLSVSNYIF>T<AIFVAEMMVKVVALGLLSGEHAYLQSSWNL	1366
CACNA1I	LNCITIALERPQIEAGSTERIFLTVSNYIF>T<AIFVGEMTLKVVSLGLYFGEQAYLRSSWNV	1242
CACNA1S	LSSAALAAEDPI-RADSMRNQILKHFDIGF>T<SVFTVEIVLKMTTYGAFLHKGSFCRNYFNM	870
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1247I	c.3740C>T	Putative Benign			SIFT: Polyphen: