Paralogue Annotation for SCN5A residue 941

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 941
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 941

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AS804FParamyotonia congenitaHigh9 1338909

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.



SCN5AGQSLCLLVFLLVMVIGNLVVLNLFLALLLS>S<FS-ADNLTAP-DEDREM-NNLQL-ALARIQ967
SCN1AGQAMCLTVFMMVMVIGNLVVLNLFLALLLS>S<FS-ADNLAAT-DDDNEM-NNLQI-AVDRMH1020
SCN2AGQTMCLTVFMMVMVIGNLVVLNLFLALLLS>S<FS-SDNLAAT-DDDNEM-NNLQI-AVGRMQ1011
SCN3AGQTMCLIVFMLVMVIGNLVVLNLFLALLLS>S<FS-SDNLAAT-DDDNEM-NNLQI-AVGRMQ1012
SCN4AGQAMCLTVFLMVMVIGNLVVLNLFLALLLS>S<FS-ADSLAAS-DEDGEM-NNLQI-AIGRIK830
SCN7AGQSWCIPFYLMVILIGNLLVLYLFLA-LVS>S<FS-SCKDVTA-EENNEA-KNLQL-AVARIK756
SCN8AGQAMCLIVFMMVMVIGNLVVLNLFLALLLS>S<FS-ADNLAAT-DDDGEM-NNLQI-SVIRIK1005
SCN9AGQAMCLIVYMMVMVIGNLVVLNLFLALLLS>S<FS-SDNLTAI-EEDPDA-NNLQI-AVTRIK985
SCN10AQKSICLILFLTVMVLGNLVVLNLFIALLLN>S<FS-ADNLTAP-EDDGEV-NNLQV-ALARIQ918
SCN11ASSSLCVIVFILITVIGKLVVLNLFIALLLN>S<FS-NEERNGNLEGEARK-TKVQL-ALDRFR840
CACNA1AGGMVFSIYFIVLTLFGNYTLLNVFLAIAVD>N<LANAQELTKDEQEEEEA-ANQKL-ALQKAK744
CACNA1BKGMFSSFYFIVLTLFGNYTLLNVFLAIAVD>N<LANAQELTKDEEEMEEA-ANQKL-ALQKAK740
CACNA1CPGMLVCIYFIILFICGNYILLNVFLAIAVD>N<LADAESLTSAQKEEEEE-KERKK-LART--781
CACNA1DSGMIVCIYFIILFICGNYILLNVFLAIAVD>N<LADAESLNTAQKEEAEE-KERKK-IARK--800
CACNA1ESGMWSAIYFIVLTLFGNYTLLNVFLAIAVD>N<LANAQELTKDEQEEEEA-FNQKH-ALQKAK733
CACNA1FPGMLVCIYFIILFICGNYILLNVFLAIAVD>N<LASGDA-GTAKDKGGEK-SNEKDLPQEN--786
CACNA1G--SWAALYFIALMTFGNYVLFNLLVAILVE>G<FQ-AEEISKREDASGQL-SCIQL-PVDSQG993
CACNA1H--SWAALYFVALMTFGNYVLFNLLVAILVE>G<FQ-AEGDANRSDTDEDKTSVHFEEDFHKL-1045
CACNA1I--PWASLYFVALMTFGNYVLFNLLVAILVE>G<FQAEGDAN-RSYSDEDQSSSNIE-EFDKLQ892
CACNA1SPGMLVCIYFIILFVCGNYILLNVFLAIAVD>N<LAEAESLTSAQKAKAEE-KKRRK-MSKGLP691
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 941 for SCN5A.