Paralogue Annotation for SCN5A residue 886

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 886
Reference Amino Acid: H - Histidine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 886

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH939QMyoclonic epilepsy of infancyHigh9 12754708, 17054685
SCN1AH939YDravet syndromeHigh9 20431604
CACNA1HW962CAutism spectrum disorder ?Medium9 16754686

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.



SCN5AYSEL-RDS----D-SG---LLPRWHMMDFF>H<AFLIIFRILCGE-WIETMWDCMEV-----S910
SCN1AYKDC-VCK----I-AS-DCQLPRWHMNDFF>H<SFLIVFRVLCGE-WIETMWDCMEV-----A963
SCN2AYKEC-VCK----I-SN-DCELPRWHMHDFF>H<SFLIVFRVLCGE-WIETMWDCMEV-----A954
SCN3AYKEC-VCK----I-ND-DCTLPRWHMNDFF>H<SFLIVFRVLCGE-WIETMWDCMEV-----A955
SCN4AYKEC-VCK----I-AL-DCNLPRWHMHDFF>H<SFLIVFRILCGE-WIETMWDCMEV-----A773
SCN7AYEEF-VCH----I-DK-DCQLPRWHMHDFF>H<SFLNVFRILCGE-WVETLWDCMEV-----A700
SCN8AYKEC-VCK----I-NQ-DCELPRWHMHDFF>H<SFLIVFRVLCGE-WIETMWDCMEV-----A948
SCN9AYKEC-VCK----I-ND-DCTLPRWHMNDFF>H<SFLIVFRVLCGE-WIETMWDCMEV-----A928
SCN10AYRNN-RKN----I-SAPHEDWPRWHMHDFF>H<SFLIVFRILCGE-WIENMWACMEV-----G861
SCN11AFNSQ-KSPKLCNPTGPTVSCLRHWHMGDFW>H<SFLVVFRILCGE-WIENMWECMQEAN---A782
CACNA1AFNFD-E------------G-TPPTNFDTFP>A<AIMTVFQILTGEDWNEVMYDGIKSQGGV-Q685
CACNA1BFNFQ-D------------E-TPTTNFDTFP>A<AILTVFQILTGEDWNAVMYHGIESQGGV-S681
CACNA1CFNFD-E------------MQTRRSTFDNFP>Q<SLLTVFQILTGEDWNSVMYDGIMAYGGPSF724
CACNA1DFNFD-E------------TQTKRSTFDNFP>Q<ALLTVFQILTGEDWNAVMYDGIMAYGGPSS743
CACNA1EFNFN-D------------G-TPSANFDTFP>A<AIMTVFQILTGEDWNEVMYNGIRSQGGV-S674
CACNA1FFNFD-Q------------THTKRSTFDTFP>Q<ALLTVFQILTGEDWNVVMYDGIMAYGGPFF729
CACNA1GFASER---------DG-DTLPDRKNFDSLL>W<AIVTVFQILTQEDWNKVLYNGMAS-T-S--937
CACNA1HFSLKTD--------TG-DTVPDRKNFDSLL>W<AIVTVFQILTQEDWNVVLYNGMAS-T-S--988
CACNA1IFSLRTD--------TG-DTVPDRKNFDSLL>W<AIVTVFQILTQEDWNVVLYNGMAS-T-S--835
CACNA1SYDFE-D------------TEVRRSNFDNFP>Q<ALISVFQVLTGEDWTSMMYNGIMAYGGPSY632
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H886Pc.2657A>C Inherited ArrhythmiaBrSrs199473169SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
Inherited ArrhythmiaBrS Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861