Paralogue Annotation for SCN5A residue 1201

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1201
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1201

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I1214R	Dravet syndrome	High	9	22848613

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	R-CPCCAVDTTQAP---GKVWWRLRKTCYH>I<VEHSWFETFIIFMILLSSGALAFEDIYLEE	1231
SCN1A	R-FKCCQINVEEGR---GKQWWNLRRTCFR>I<VEHNWFETFIVFMILLSSGALAFEDIYIDQ	1244
SCN2A	K-FKCCQISIEEGK---GKLWWNLRKTCYK>I<VEHNWFETFIVFMILLSSGALAFEDIYIEQ	1234
SCN3A	K-FPFCQVSTEEGK---GKIWWNLRKTCYS>I<VEHNWFETFIVFMILLSSGALAFEDIYIEQ	1232
SCN4A	R-WPCLYVDISQGR---GKKWWTLRRACFK>I<VEHNWFETFIVFMILLSSGALAFEDIYIEQ	1057
SCN7A	G-SSLGQISGASKK---GKIWQNIRKTCCK>I<VENNWFKCFIGLVTLLSTGTLAFEDIYMDQ	960
SCN8A	R-FKCCQVNIEEGL---GKSWWILRKTCFL>I<VEHNWFETFIIFMILLSSGALAFEDIYIEQ	1224
SCN9A	R-FSCCQVNIESGK---GKIWWNIRKTCYK>I<VEHSWFESFIVLMILLSSGALAFEDIYIER	1207
SCN10A	H-CPCCKLDTTKSP---WDVGWQVRKTCYR>I<VEHSWFESFIIFMILLSSGSLAFEDYYLDQ	1178
SCN11A	C-FPCCSVDKRKPP---WVIWWNLRKTCYQ>I<VKHSWFESFIIFVILLSSGALIFEDVHLEN	1082
CACNA1A	GEDGPK-PMPPYSSMFILSTTNPLRRLCHY>I<LNLRYFEMCILMVIAMSSIALAAEDPV-QP	1269
CACNA1B	MRSGPR-PIVPYSSMFCLSPTNLLRRFCHY>I<VTMRYFEVVILVVIALSSIALAAEDPV-RT	1176
CACNA1C	LKEKAV-PMPEASAFFIFSSNNRFRLQCHR>I<VNDTIFTNLILFFILLSSISLAAEDPV-QH	925
CACNA1D	MKEKIA-PIPEGSAFFILSKTNPIRVGCHK>L<INHHIFTNLILVFIMLSSAALAAEDPI-RS	931
CACNA1E	RETG-K-AMVPHSSMFIFSTTNPIRRACHY>I<VNLRYFEMCILLVIAASSIALAAEDPV-LT	1178
CACNA1F	PKEKVV-PIPEGSAFFCLSQTNPLRKGCHT>L<IHHHVFTNLILVFIILSSVSLAAEDPI-RA	896
CACNA1G	LP-ACCLERDSWSAY-IFPPQSRFRLLCHR>I<ITHKMFDHVVLVIIFLNCITIAMERPKIDP	1302
CACNA1H	KP-QWCRSREAWALY-LFSPQNRFRVSCQK>V<ITHKMFDHVVLVFIFLNCVTIALERPDIDP	1320
CACNA1I	KP-DWCEVREDWSVY-LFSPENRFRVLCQT>I<IAHKLFDYVVLAFIFLNCITIALERPQIEA	1196
CACNA1S	LKEKAV-PIPEASSFFIFSPTNKIRVLCHR>I<VNATWFTNFILLFILLSSAALAAEDPI-RA	824
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1201M	c.3603C>G	Putative Benign			SIFT: Polyphen: