Paralogue Annotation for SCN5A residue 940

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 940
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 940

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AD715EHemiplegic migraine, progressive cerebellar ataxiaMedium9 9915947, 10734061
SCN1AS993RDravet syndrome B ?High9 21248271

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.



SCN5ASGQSLCLLVFLLVMVIGNLVVLNLFLALLL>S<SFS-ADNLTAP-DEDREM-NNLQL-ALARI966
SCN1AAGQAMCLTVFMMVMVIGNLVVLNLFLALLL>S<SFS-ADNLAAT-DDDNEM-NNLQI-AVDRM1019
SCN2AAGQTMCLTVFMMVMVIGNLVVLNLFLALLL>S<SFS-SDNLAAT-DDDNEM-NNLQI-AVGRM1010
SCN3AAGQTMCLIVFMLVMVIGNLVVLNLFLALLL>S<SFS-SDNLAAT-DDDNEM-NNLQI-AVGRM1011
SCN4AAGQAMCLTVFLMVMVIGNLVVLNLFLALLL>S<SFS-ADSLAAS-DEDGEM-NNLQI-AIGRI829
SCN7AAGQSWCIPFYLMVILIGNLLVLYLFLA-LV>S<SFS-SCKDVTA-EENNEA-KNLQL-AVARI755
SCN8AAGQAMCLIVFMMVMVIGNLVVLNLFLALLL>S<SFS-ADNLAAT-DDDGEM-NNLQI-SVIRI1004
SCN9AAGQAMCLIVYMMVMVIGNLVVLNLFLALLL>S<SFS-SDNLTAI-EEDPDA-NNLQI-AVTRI984
SCN10AGQKSICLILFLTVMVLGNLVVLNLFIALLL>N<SFS-ADNLTAP-EDDGEV-NNLQV-ALARI917
SCN11AASSSLCVIVFILITVIGKLVVLNLFIALLL>N<SFS-NEERNGNLEGEARK-TKVQL-ALDRF839
CACNA1AQGGMVFSIYFIVLTLFGNYTLLNVFLAIAV>D<NLANAQELTKDEQEEEEA-ANQKL-ALQKA743
CACNA1BSKGMFSSFYFIVLTLFGNYTLLNVFLAIAV>D<NLANAQELTKDEEEMEEA-ANQKL-ALQKA739
CACNA1CFPGMLVCIYFIILFICGNYILLNVFLAIAV>D<NLADAESLTSAQKEEEEE-KERKK-LART-781
CACNA1DSSGMIVCIYFIILFICGNYILLNVFLAIAV>D<NLADAESLNTAQKEEAEE-KERKK-IARK-800
CACNA1ESSGMWSAIYFIVLTLFGNYTLLNVFLAIAV>D<NLANAQELTKDEQEEEEA-FNQKH-ALQKA732
CACNA1FFPGMLVCIYFIILFICGNYILLNVFLAIAV>D<NLASGDA-GTAKDKGGEK-SNEKDLPQEN-786
CACNA1G---SWAALYFIALMTFGNYVLFNLLVAILV>E<GFQ-AEEISKREDASGQL-SCIQL-PVDSQ992
CACNA1H---SWAALYFVALMTFGNYVLFNLLVAILV>E<GFQ-AEGDANRSDTDEDKTSVHFEEDFHKL1045
CACNA1I---PWASLYFVALMTFGNYVLFNLLVAILV>E<GFQAEGDAN-RSYSDEDQSSSNIE-EFDKL891
CACNA1SYPGMLVCIYFIILFVCGNYILLNVFLAIAV>D<NLAEAESLTSAQKAKAEE-KKRRK-MSKGL690
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 940 for SCN5A.