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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI943NDravet syndromeHigh9 18930999
CACNA1SS606NMalignant hyperthermiaMedium9 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-----SGQSL914
SCN1A-VCK----I-AS-DCQLPRWHMNDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQAM967
SCN2A-VCK----I-SN-DCELPRWHMHDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQTM958
SCN3A-VCK----I-ND-DCTLPRWHMNDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQTM959
SCN4A-VCK----I-AL-DCNLPRWHMHDFFHSFL>I<VFRILCGE-WIETMWDCMEV-----AGQAM777
SCN7A-VCH----I-DK-DCQLPRWHMHDFFHSFL>N<VFRILCGE-WVETLWDCMEV-----AGQSW704
SCN8A-VCK----I-NQ-DCELPRWHMHDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQAM952
SCN9A-VCK----I-ND-DCTLPRWHMNDFFHSFL>I<VFRVLCGE-WIETMWDCMEV-----AGQAM932
SCN10A-RKN----I-SAPHEDWPRWHMHDFFHSFL>I<VFRILCGE-WIENMWACMEV-----GQKSI865
SCN11A-KSPKLCNPTGPTVSCLRHWHMGDFWHSFL>V<VFRILCGE-WIENMWECMQEAN---ASSSL786
CACNA1A-E------------G-TPPTNFDTFPAAIM>T<VFQILTGEDWNEVMYDGIKSQGGV-QGGMV689
CACNA1B-D------------E-TPTTNFDTFPAAIL>T<VFQILTGEDWNAVMYHGIESQGGV-SKGMF685
CACNA1C-E------------MQTRRSTFDNFPQSLL>T<VFQILTGEDWNSVMYDGIMAYGGPSFPGML728
CACNA1D-E------------TQTKRSTFDNFPQALL>T<VFQILTGEDWNAVMYDGIMAYGGPSSSGMI747
CACNA1E-D------------G-TPSANFDTFPAAIM>T<VFQILTGEDWNEVMYNGIRSQGGV-SSGMW678
CACNA1F-Q------------THTKRSTFDTFPQALL>T<VFQILTGEDWNVVMYDGIMAYGGPFFPGML733
CACNA1GR---------DG-DTLPDRKNFDSLLWAIV>T<VFQILTQEDWNKVLYNGMAS-T-S----SW939
CACNA1HTD--------TG-DTVPDRKNFDSLLWAIV>T<VFQILTQEDWNVVLYNGMAS-T-S----SW990
CACNA1ITD--------TG-DTVPDRKNFDSLLWAIV>T<VFQILTQEDWNVVLYNGMAS-T-S----PW837
CACNA1S-D------------TEVRRSNFDNFPQALI>S<VFQVLTGEDWTSMMYNGIMAYGGPSYPGML636
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I890Tc.2669T>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS 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