Paralogue Annotation for SCN5A residue 1241

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1241
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1241

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	Y1254C	Intractable epilepsy	High	9	23195492

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	IIFMILLSSGALAFEDIYLEERKTIKVLLE>Y<ADKMFTYVFVLEMLLKWVAYGF----KKYF	1267
SCN1A	IVFMILLSSGALAFEDIYIDQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGY----QTYF	1280
SCN2A	IVFMILLSSGALAFEDIYIEQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGF----QVYF	1270
SCN3A	IVFMILLSSGALAFEDIYIEQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGF----QTYF	1268
SCN4A	IVFMILLSSGALAFEDIYIEQRRVIRTILE>Y<ADKVFTYIFIMEMLLKWVAYGF----KVYF	1093
SCN7A	IGLVTLLSTGTLAFEDIYMDQRKTIKILLE>Y<ADMIFTYIFILEMLLKWMAYGF----KAYF	996
SCN8A	IIFMILLSSGALAFEDIYIEQRKTIRTILE>Y<ADKVFTYIFILEMLLKWTAYGF----VKFF	1260
SCN9A	IVLMILLSSGALAFEDIYIERKKTIKIILE>Y<ADKIFTYIFILEMLLKWIAYGY----KTYF	1243
SCN10A	IIFMILLSSGSLAFEDYYLDQKPTVKALLE>Y<TDRVFTFIFVFEMLLKWVAYGF----KKYF	1214
SCN11A	IIFVILLSSGALIFEDVHLENQPKIQELLN>C<TDIIFTHIFILEMVLKWVAFGF----GKYF	1118
CACNA1A	ILMVIAMSSIALAAEDPV-QPNAPRNNVLR>Y<FDYVFTGVFTFEMVIKMIDLGLVLHQGAYF	1309
CACNA1B	ILVVIALSSIALAAEDPV-RTDSPRNNALK>Y<LDYIFTGVFTFEMVIKMIDLGLLLHPGAYF	1216
CACNA1C	ILFFILLSSISLAAEDPV-QHTSFRNHILF>Y<FDIVFTTIFTIEIALKMTAYGAFLHKGSFC	965
CACNA1D	ILVFIMLSSAALAAEDPI-RSHSFRNTILG>Y<FDYAFTAIFTVEILLKMTTFGAFLHKGAFC	971
CACNA1E	ILLVIAASSIALAAEDPV-LTNSERNKVLR>Y<FDYVFTGVFTFEMVIKMIDQGLILQDGSYF	1218
CACNA1F	ILVFIILSSVSLAAEDPI-RAHSFRNHILG>Y<FDYAFTSIFTVEILLKMTVFGAFLHRGSFC	936
CACNA1G	VLVIIFLNCITIAMERPKIDPHSAERIFLT>L<SNYIFTAVFLAEMTVKVVALGWCFGEQAYL	1342
CACNA1H	VLVFIFLNCVTIALERPDIDPGSTERVFLS>V<SNYIFTAIFVAEMMVKVVALGLLSGEHAYL	1360
CACNA1I	VLAFIFLNCITIALERPQIEAGSTERIFLT>V<SNYIFTAIFVGEMTLKVVSLGLYFGEQAYL	1236
CACNA1S	ILLFILLSSAALAAEDPI-RADSMRNQILK>H<FDIGFTSVFTVEIVLKMTTYGAFLHKGSFC	864
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1241S	c.3722A>C	Inherited Arrhythmia	LQTS	rs199473212	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833