Paralogue Annotation for SCN5A residue 883

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 883
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 883

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D936V	Dravet syndrome	High	9	23485646

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	GKNYSEL-RDS----D-SG---LLPRWHMM>D<FFHAFLIIFRILCGE-WIETMWDCMEV---	909
SCN1A	GKSYKDC-VCK----I-AS-DCQLPRWHMN>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---	962
SCN2A	GKSYKEC-VCK----I-SN-DCELPRWHMH>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---	953
SCN3A	GKSYKEC-VCK----I-ND-DCTLPRWHMN>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---	954
SCN4A	GKSYKEC-VCK----I-AL-DCNLPRWHMH>D<FFHSFLIVFRILCGE-WIETMWDCMEV---	772
SCN7A	GKNYEEF-VCH----I-DK-DCQLPRWHMH>D<FFHSFLNVFRILCGE-WVETLWDCMEV---	699
SCN8A	GKSYKEC-VCK----I-NQ-DCELPRWHMH>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---	947
SCN9A	GKSYKEC-VCK----I-ND-DCTLPRWHMN>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---	927
SCN10A	GENYRNN-RKN----I-SAPHEDWPRWHMH>D<FFHSFLIVFRILCGE-WIENMWACMEV---	860
SCN11A	GRSFNSQ-KSPKLCNPTGPTVSCLRHWHMG>D<FWHSFLVVFRILCGE-WIENMWECMQEAN-	781
CACNA1A	GGQFNFD-E------------G-TPPTNFD>T<FPAAIMTVFQILTGEDWNEVMYDGIKSQGG	683
CACNA1B	GGQFNFQ-D------------E-TPTTNFD>T<FPAAILTVFQILTGEDWNAVMYHGIESQGG	679
CACNA1C	GGKFNFD-E------------MQTRRSTFD>N<FPQSLLTVFQILTGEDWNSVMYDGIMAYGG	721
CACNA1D	GGKFNFD-E------------TQTKRSTFD>N<FPQALLTVFQILTGEDWNAVMYDGIMAYGG	740
CACNA1E	GGRFNFN-D------------G-TPSANFD>T<FPAAIMTVFQILTGEDWNEVMYNGIRSQGG	672
CACNA1F	GGKFNFD-Q------------THTKRSTFD>T<FPQALLTVFQILTGEDWNVVMYDGIMAYGG	726
CACNA1G	GCKFASER---------DG-DTLPDRKNFD>S<LLWAIVTVFQILTQEDWNKVLYNGMAS-T-	936
CACNA1H	GCKFSLKTD--------TG-DTVPDRKNFD>S<LLWAIVTVFQILTQEDWNVVLYNGMAS-T-	987
CACNA1I	GCKFSLRTD--------TG-DTVPDRKNFD>S<LLWAIVTVFQILTQEDWNVVLYNGMAS-T-	834
CACNA1S	GGRYDFE-D------------TEVRRSNFD>N<FPQALISVFQVLTGEDWTSMMYNGIMAYGG	629
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Asp883Asn	c.2647G>A	Unknown			SIFT: Polyphen: