Paralogue Annotation for SCN5A residue 943

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 943
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 943

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AS987IEpileptic encephalopathy, early infantileHigh8 26993267, 27353043

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.



SCN5ASLCLLVFLLVMVIGNLVVLNLFLALLLSSF>S<-ADNLTAP-DEDREM-NNLQL-ALARIQRG969
SCN1AAMCLTVFMMVMVIGNLVVLNLFLALLLSSF>S<-ADNLAAT-DDDNEM-NNLQI-AVDRMHKG1022
SCN2ATMCLTVFMMVMVIGNLVVLNLFLALLLSSF>S<-SDNLAAT-DDDNEM-NNLQI-AVGRMQKG1013
SCN3ATMCLIVFMLVMVIGNLVVLNLFLALLLSSF>S<-SDNLAAT-DDDNEM-NNLQI-AVGRMQKG1014
SCN4AAMCLTVFLMVMVIGNLVVLNLFLALLLSSF>S<-ADSLAAS-DEDGEM-NNLQI-AIGRIKLG832
SCN7ASWCIPFYLMVILIGNLLVLYLFLA-LVSSF>S<-SCKDVTA-EENNEA-KNLQL-AVARIKKG758
SCN8AAMCLIVFMMVMVIGNLVVLNLFLALLLSSF>S<-ADNLAAT-DDDGEM-NNLQI-SVIRIKKG1007
SCN9AAMCLIVYMMVMVIGNLVVLNLFLALLLSSF>S<-SDNLTAI-EEDPDA-NNLQI-AVTRIKKG987
SCN10ASICLILFLTVMVLGNLVVLNLFIALLLNSF>S<-ADNLTAP-EDDGEV-NNLQV-ALARIQV-919
SCN11ASLCVIVFILITVIGKLVVLNLFIALLLNSF>S<-NEERNGNLEGEARK-TKVQL-ALDRFRRA842
CACNA1AMVFSIYFIVLTLFGNYTLLNVFLAIAVDNL>A<NAQELTKDEQEEEEA-ANQKL-ALQKAKEV746
CACNA1BMFSSFYFIVLTLFGNYTLLNVFLAIAVDNL>A<NAQELTKDEEEMEEA-ANQKL-ALQKAKEV742
CACNA1CMLVCIYFIILFICGNYILLNVFLAIAVDNL>A<DAESLTSAQKEEEEE-KERKK-LART---A782
CACNA1DMIVCIYFIILFICGNYILLNVFLAIAVDNL>A<DAESLNTAQKEEAEE-KERKK-IARK---E801
CACNA1EMWSAIYFIVLTLFGNYTLLNVFLAIAVDNL>A<NAQELTKDEQEEEEA-FNQKH-ALQKAKEV735
CACNA1FMLVCIYFIILFICGNYILLNVFLAIAVDNL>A<SGDA-GTAKDKGGEK-SNEKDLPQEN---E787
CACNA1GSWAALYFIALMTFGNYVLFNLLVAILVEGF>Q<-AEEISKREDASGQL-SCIQL-PVDSQGGD995
CACNA1HSWAALYFVALMTFGNYVLFNLLVAILVEGF>Q<-AEGDANRSDTDEDKTSVHFEEDFHKL---1045
CACNA1IPWASLYFVALMTFGNYVLFNLLVAILVEGF>Q<AEGDAN-RSYSDEDQSSSNIE-EFDKLQE-893
CACNA1SMLVCIYFIILFVCGNYILLNVFLAIAVDNL>A<EAESLTSAQKAKAEE-KKRRK-MSKGLPDK693
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 943 for SCN5A.