Paralogue Annotation for SCN5A residue 946

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 946
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 946

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AN984KIntellectual disability and epilepsyHigh5 25725044, 25725044, 26252990

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.



SCN5ALVFLLVMVIGNLVVLNLFLALLLSSFS-AD>N<LTAP-DEDREM-NNLQL-ALARIQRGLRFV973
SCN1ATVFMMVMVIGNLVVLNLFLALLLSSFS-AD>N<LAAT-DDDNEM-NNLQI-AVDRMHKGVAYV1026
SCN2ATVFMMVMVIGNLVVLNLFLALLLSSFS-SD>N<LAAT-DDDNEM-NNLQI-AVGRMQKGIDFV1017
SCN3AIVFMLVMVIGNLVVLNLFLALLLSSFS-SD>N<LAAT-DDDNEM-NNLQI-AVGRMQKGIDYV1018
SCN4ATVFLMVMVIGNLVVLNLFLALLLSSFS-AD>S<LAAS-DEDGEM-NNLQI-AIGRIKLGIGFA836
SCN7APFYLMVILIGNLLVLYLFLA-LVSSFS-SC>K<DVTA-EENNEA-KNLQL-AVARIKKGINYV762
SCN8AIVFMMVMVIGNLVVLNLFLALLLSSFS-AD>N<LAAT-DDDGEM-NNLQI-SVIRIKKGVAWT1011
SCN9AIVYMMVMVIGNLVVLNLFLALLLSSFS-SD>N<LTAI-EEDPDA-NNLQI-AVTRIKKGINYV991
SCN10AILFLTVMVLGNLVVLNLFIALLLNSFS-AD>N<LTAP-EDDGEV-NNLQV-ALARIQV---FG921
SCN11AIVFILITVIGKLVVLNLFIALLLNSFS-NE>E<RNGNLEGEARK-TKVQL-ALDRFRRAFCFV846
CACNA1AIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ>E<LTKDEQEEEEA-ANQKL-ALQKAKEVAEVS750
CACNA1BFYFIVLTLFGNYTLLNVFLAIAVDNLANAQ>E<LTKDEEEMEEA-ANQKL-ALQKAKEVAEVS746
CACNA1CIYFIILFICGNYILLNVFLAIAVDNLADAE>S<LTSAQKEEEEE-KERKK-LART---AS---783
CACNA1DIYFIILFICGNYILLNVFLAIAVDNLADAE>S<LNTAQKEEAEE-KERKK-IARK---ES---802
CACNA1EIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ>E<LTKDEQEEEEA-FNQKH-ALQKAKEVSPMS739
CACNA1FIYFIILFICGNYILLNVFLAIAVDNLASGD>A<-GTAKDKGGEK-SNEKDLPQEN---EG---788
CACNA1GLYFIALMTFGNYVLFNLLVAILVEGFQ-AE>E<ISKREDASGQL-SCIQL-PVDSQGGDANKS999
CACNA1HLYFVALMTFGNYVLFNLLVAILVEGFQ-AE>G<DANRSDTDEDKTSVHFEEDFHKL-------1045
CACNA1ILYFVALMTFGNYVLFNLLVAILVEGFQAEG>D<AN-RSYSDEDQSSSNIE-EFDKLQE-----893
CACNA1SIYFIILFVCGNYILLNVFLAIAVDNLAEAE>S<LTSAQKAKAEE-KKRRK-MSKGLPDKS---694
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 946 for SCN5A.