Paralogue Annotation for SCN5A residue 1223

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1223
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1223

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	A1236P	Dravet syndrome	High	9	24168886

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	RLRKTCYHIVEHSWFETFIIFMILLSSGAL>A<FEDIYLEERKTIKVLLEYADKMFTYVFVLE	1253
SCN1A	NLRRTCFRIVEHNWFETFIVFMILLSSGAL>A<FEDIYIDQRKTIKTMLEYADKVFTYIFILE	1266
SCN2A	NLRKTCYKIVEHNWFETFIVFMILLSSGAL>A<FEDIYIEQRKTIKTMLEYADKVFTYIFILE	1256
SCN3A	NLRKTCYSIVEHNWFETFIVFMILLSSGAL>A<FEDIYIEQRKTIKTMLEYADKVFTYIFILE	1254
SCN4A	TLRRACFKIVEHNWFETFIVFMILLSSGAL>A<FEDIYIEQRRVIRTILEYADKVFTYIFIME	1079
SCN7A	NIRKTCCKIVENNWFKCFIGLVTLLSTGTL>A<FEDIYMDQRKTIKILLEYADMIFTYIFILE	982
SCN8A	ILRKTCFLIVEHNWFETFIIFMILLSSGAL>A<FEDIYIEQRKTIRTILEYADKVFTYIFILE	1246
SCN9A	NIRKTCYKIVEHSWFESFIVLMILLSSGAL>A<FEDIYIERKKTIKIILEYADKIFTYIFILE	1229
SCN10A	QVRKTCYRIVEHSWFESFIIFMILLSSGSL>A<FEDYYLDQKPTVKALLEYTDRVFTFIFVFE	1200
SCN11A	NLRKTCYQIVKHSWFESFIIFVILLSSGAL>I<FEDVHLENQPKIQELLNCTDIIFTHIFILE	1104
CACNA1A	PLRRLCHYILNLRYFEMCILMVIAMSSIAL>A<AEDPV-QPNAPRNNVLRYFDYVFTGVFTFE	1291
CACNA1B	LLRRFCHYIVTMRYFEVVILVVIALSSIAL>A<AEDPV-RTDSPRNNALKYLDYIFTGVFTFE	1198
CACNA1C	RFRLQCHRIVNDTIFTNLILFFILLSSISL>A<AEDPV-QHTSFRNHILFYFDIVFTTIFTIE	947
CACNA1D	PIRVGCHKLINHHIFTNLILVFIMLSSAAL>A<AEDPI-RSHSFRNTILGYFDYAFTAIFTVE	953
CACNA1E	PIRRACHYIVNLRYFEMCILLVIAASSIAL>A<AEDPV-LTNSERNKVLRYFDYVFTGVFTFE	1200
CACNA1F	PLRKGCHTLIHHHVFTNLILVFIILSSVSL>A<AEDPI-RAHSFRNHILGYFDYAFTSIFTVE	918
CACNA1G	RFRLLCHRIITHKMFDHVVLVIIFLNCITI>A<MERPKIDPHSAERIFLTLSNYIFTAVFLAE	1324
CACNA1H	RFRVSCQKVITHKMFDHVVLVFIFLNCVTI>A<LERPDIDPGSTERVFLSVSNYIFTAIFVAE	1342
CACNA1I	RFRVLCQTIIAHKLFDYVVLAFIFLNCITI>A<LERPQIEAGSTERIFLTVSNYIFTAIFVGE	1218
CACNA1S	KIRVLCHRIVNATWFTNFILLFILLSSAAL>A<AEDPI-RADSMRNQILKHFDIGFTSVFTVE	846
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ala1223Pro	c.3667G>C	Unknown			SIFT: Polyphen: