Paralogue Annotation for SCN5A residue 1218

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1218
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1218

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	S1231T	Myoclonic epilepsy of infancy	High	9	16458823
SCN1A	S1231R	Myoclonic epilepsy of infancy	High	9	12566275

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	GKVWWRLRKTCYHIVEHSWFETFIIFMILL>S<SGALAFEDIYLEERKTIKVLLEYADKMFTY	1248
SCN1A	GKQWWNLRRTCFRIVEHNWFETFIVFMILL>S<SGALAFEDIYIDQRKTIKTMLEYADKVFTY	1261
SCN2A	GKLWWNLRKTCYKIVEHNWFETFIVFMILL>S<SGALAFEDIYIEQRKTIKTMLEYADKVFTY	1251
SCN3A	GKIWWNLRKTCYSIVEHNWFETFIVFMILL>S<SGALAFEDIYIEQRKTIKTMLEYADKVFTY	1249
SCN4A	GKKWWTLRRACFKIVEHNWFETFIVFMILL>S<SGALAFEDIYIEQRRVIRTILEYADKVFTY	1074
SCN7A	GKIWQNIRKTCCKIVENNWFKCFIGLVTLL>S<TGTLAFEDIYMDQRKTIKILLEYADMIFTY	977
SCN8A	GKSWWILRKTCFLIVEHNWFETFIIFMILL>S<SGALAFEDIYIEQRKTIRTILEYADKVFTY	1241
SCN9A	GKIWWNIRKTCYKIVEHSWFESFIVLMILL>S<SGALAFEDIYIERKKTIKIILEYADKIFTY	1224
SCN10A	WDVGWQVRKTCYRIVEHSWFESFIIFMILL>S<SGSLAFEDYYLDQKPTVKALLEYTDRVFTF	1195
SCN11A	WVIWWNLRKTCYQIVKHSWFESFIIFVILL>S<SGALIFEDVHLENQPKIQELLNCTDIIFTH	1099
CACNA1A	LSTTNPLRRLCHYILNLRYFEMCILMVIAM>S<SIALAAEDPV-QPNAPRNNVLRYFDYVFTG	1286
CACNA1B	LSPTNLLRRFCHYIVTMRYFEVVILVVIAL>S<SIALAAEDPV-RTDSPRNNALKYLDYIFTG	1193
CACNA1C	FSSNNRFRLQCHRIVNDTIFTNLILFFILL>S<SISLAAEDPV-QHTSFRNHILFYFDIVFTT	942
CACNA1D	LSKTNPIRVGCHKLINHHIFTNLILVFIML>S<SAALAAEDPI-RSHSFRNTILGYFDYAFTA	948
CACNA1E	FSTTNPIRRACHYIVNLRYFEMCILLVIAA>S<SIALAAEDPV-LTNSERNKVLRYFDYVFTG	1195
CACNA1F	LSQTNPLRKGCHTLIHHHVFTNLILVFIIL>S<SVSLAAEDPI-RAHSFRNHILGYFDYAFTS	913
CACNA1G	FPPQSRFRLLCHRIITHKMFDHVVLVIIFL>N<CITIAMERPKIDPHSAERIFLTLSNYIFTA	1319
CACNA1H	FSPQNRFRVSCQKVITHKMFDHVVLVFIFL>N<CVTIALERPDIDPGSTERVFLSVSNYIFTA	1337
CACNA1I	FSPENRFRVLCQTIIAHKLFDYVVLAFIFL>N<CITIALERPQIEAGSTERIFLTVSNYIFTA	1213
CACNA1S	FSPTNKIRVLCHRIVNATWFTNFILLFILL>S<SAALAAEDPI-RADSMRNQILKHFDIGFTS	841
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1218I	c.3653G>T	Inherited Arrhythmia	BrS		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	BrS	Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circ Arrhythm Electrophysiol. 2013 6(1):177-84. doi: 10.1161/CIRCEP.112.974220. 23424222