Paralogue Annotation for SCN5A residue 890

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 890
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 890

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I943N	Dravet syndrome	High	9	18930999
CACNA1S	S606N	Malignant hyperthermia	Medium	9	25658027, 27153395

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	-RDS----D-SG---LLPRWHMMDFFHAFL>I<IFRILCGE-WIETMWDCMEV-----SGQSL	914
SCN1A	-VCK----I-AS-DCQLPRWHMNDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQAM	967
SCN2A	-VCK----I-SN-DCELPRWHMHDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQTM	958
SCN3A	-VCK----I-ND-DCTLPRWHMNDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQTM	959
SCN4A	-VCK----I-AL-DCNLPRWHMHDFFHSFL>I<VFRILCGE-WIETMWDCMEV-----AGQAM	777
SCN7A	-VCH----I-DK-DCQLPRWHMHDFFHSFL>N<VFRILCGE-WVETLWDCMEV-----AGQSW	704
SCN8A	-VCK----I-NQ-DCELPRWHMHDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQAM	952
SCN9A	-VCK----I-ND-DCTLPRWHMNDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQAM	932
SCN10A	-RKN----I-SAPHEDWPRWHMHDFFHSFL>I<VFRILCGE-WIENMWACMEV-----GQKSI	865
SCN11A	-KSPKLCNPTGPTVSCLRHWHMGDFWHSFL>V<VFRILCGE-WIENMWECMQEAN---ASSSL	786
CACNA1A	-E------------G-TPPTNFDTFPAAIM>T<VFQILTGEDWNEVMYDGIKSQGGV-QGGMV	689
CACNA1B	-D------------E-TPTTNFDTFPAAIL>T<VFQILTGEDWNAVMYHGIESQGGV-SKGMF	685
CACNA1C	-E------------MQTRRSTFDNFPQSLL>T<VFQILTGEDWNSVMYDGIMAYGGPSFPGML	728
CACNA1D	-E------------TQTKRSTFDNFPQALL>T<VFQILTGEDWNAVMYDGIMAYGGPSSSGMI	747
CACNA1E	-D------------G-TPSANFDTFPAAIM>T<VFQILTGEDWNEVMYNGIRSQGGV-SSGMW	678
CACNA1F	-Q------------THTKRSTFDTFPQALL>T<VFQILTGEDWNVVMYDGIMAYGGPFFPGML	733
CACNA1G	R---------DG-DTLPDRKNFDSLLWAIV>T<VFQILTQEDWNKVLYNGMAS-T-S----SW	939
CACNA1H	TD--------TG-DTVPDRKNFDSLLWAIV>T<VFQILTQEDWNVVLYNGMAS-T-S----SW	990
CACNA1I	TD--------TG-DTVPDRKNFDSLLWAIV>T<VFQILTQEDWNVVLYNGMAS-T-S----PW	837
CACNA1S	-D------------TEVRRSNFDNFPQALI>S<VFQVLTGEDWTSMMYNGIMAYGGPSYPGML	636
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I890T	c.2669T>C	Inherited Arrhythmia	BrS		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	BrS	A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome. PLoS One. 2013 8(1):e53220. doi: 10.1371/journal.pone.0053220. 23308164