Paralogue Annotation for SCN5A residue 901

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 901
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 901

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE954KDravet syndrome C ?High9 21248271, 20110217

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---LLPRWHMMDFFHAFLIIFRILCGE-WI>E<TMWDCMEV-----SGQSLCLLVFLLVMVIG926
SCN1A-DCQLPRWHMNDFFHSFLIVFRVLCGE-WI>E<TMWDCMEV-----AGQAMCLTVFMMVMVIG979
SCN2A-DCELPRWHMHDFFHSFLIVFRVLCGE-WI>E<TMWDCMEV-----AGQTMCLTVFMMVMVIG970
SCN3A-DCTLPRWHMNDFFHSFLIVFRVLCGE-WI>E<TMWDCMEV-----AGQTMCLIVFMLVMVIG971
SCN4A-DCNLPRWHMHDFFHSFLIVFRILCGE-WI>E<TMWDCMEV-----AGQAMCLTVFLMVMVIG789
SCN7A-DCQLPRWHMHDFFHSFLNVFRILCGE-WV>E<TLWDCMEV-----AGQSWCIPFYLMVILIG716
SCN8A-DCELPRWHMHDFFHSFLIVFRVLCGE-WI>E<TMWDCMEV-----AGQAMCLIVFMMVMVIG964
SCN9A-DCTLPRWHMNDFFHSFLIVFRVLCGE-WI>E<TMWDCMEV-----AGQAMCLIVYMMVMVIG944
SCN10APHEDWPRWHMHDFFHSFLIVFRILCGE-WI>E<NMWACMEV-----GQKSICLILFLTVMVLG877
SCN11ATVSCLRHWHMGDFWHSFLVVFRILCGE-WI>E<NMWECMQEAN---ASSSLCVIVFILITVIG798
CACNA1A--G-TPPTNFDTFPAAIMTVFQILTGEDWN>E<VMYDGIKSQGGV-QGGMVFSIYFIVLTLFG701
CACNA1B--E-TPTTNFDTFPAAILTVFQILTGEDWN>A<VMYHGIESQGGV-SKGMFSSFYFIVLTLFG697
CACNA1C--MQTRRSTFDNFPQSLLTVFQILTGEDWN>S<VMYDGIMAYGGPSFPGMLVCIYFIILFICG740
CACNA1D--TQTKRSTFDNFPQALLTVFQILTGEDWN>A<VMYDGIMAYGGPSSSGMIVCIYFIILFICG759
CACNA1E--G-TPSANFDTFPAAIMTVFQILTGEDWN>E<VMYNGIRSQGGV-SSGMWSAIYFIVLTLFG690
CACNA1F--THTKRSTFDTFPQALLTVFQILTGEDWN>V<VMYDGIMAYGGPFFPGMLVCIYFIILFICG745
CACNA1G-DTLPDRKNFDSLLWAIVTVFQILTQEDWN>K<VLYNGMAS-T-S----SWAALYFIALMTFG951
CACNA1H-DTVPDRKNFDSLLWAIVTVFQILTQEDWN>V<VLYNGMAS-T-S----SWAALYFVALMTFG1002
CACNA1I-DTVPDRKNFDSLLWAIVTVFQILTQEDWN>V<VLYNGMAS-T-S----PWASLYFVALMTFG849
CACNA1S--TEVRRSNFDNFPQALISVFQVLTGEDWT>S<MMYNGIMAYGGPSYPGMLVCIYFIILFVCG648
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E901Kc.2701G>A Inherited ArrhythmiaBrSrs199473174SIFT: 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