Paralogue Annotation for SCN5A residue 958

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 958
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 958

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1011IMyoclonic epilepsy of infancyHigh4 12566275, 16210358

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.



SCN5ALNLFLALLLSSFS-ADNLTAP-DEDREM-N>N<LQL-ALARIQRGLRFVK-------------974
SCN1ALNLFLALLLSSFS-ADNLAAT-DDDNEM-N>N<LQI-AVDRMHKGVAYVK-------------1027
SCN2ALNLFLALLLSSFS-SDNLAAT-DDDNEM-N>N<LQI-AVGRMQKGIDFVK-------------1018
SCN3ALNLFLALLLSSFS-SDNLAAT-DDDNEM-N>N<LQI-AVGRMQKGIDYVK-------------1019
SCN4ALNLFLALLLSSFS-ADSLAAS-DEDGEM-N>N<LQI-AIGRIKLGIGFAK-------------837
SCN7ALYLFLA-LVSSFS-SCKDVTA-EENNEA-K>N<LQL-AVARIKKGINYVL-------------763
SCN8ALNLFLALLLSSFS-ADNLAAT-DDDGEM-N>N<LQI-SVIRIKKGVAWTK-------------1012
SCN9ALNLFLALLLSSFS-SDNLTAI-EEDPDA-N>N<LQI-AVTRIKKGINYVK-------------992
SCN10ALNLFIALLLNSFS-ADNLTAP-EDDGEV-N>N<LQV-ALARIQV---FGH-------------922
SCN11ALNLFIALLLNSFS-NEERNGNLEGEARK-T>K<VQL-ALDRFRRAFCFVR-------------847
CACNA1ALNVFLAIAVDNLANAQELTKDEQEEEEA-A>N<QKL-ALQKAKEVAEVSPLSAANMS------758
CACNA1BLNVFLAIAVDNLANAQELTKDEEEMEEA-A>N<QKL-ALQKAKEVAEVSPMSAANIS------754
CACNA1CLNVFLAIAVDNLADAESLTSAQKEEEEE-K>E<RKK-LART---AS-----------------783
CACNA1DLNVFLAIAVDNLADAESLNTAQKEEAEE-K>E<RKK-IARK---ES-----------------802
CACNA1ELNVFLAIAVDNLANAQELTKDEQEEEEA-F>N<QKH-ALQKAKEVSPMSAPNMPSIERDRRRR753
CACNA1FLNVFLAIAVDNLASGDA-GTAKDKGGEK-S>N<EKDLPQEN---EG-----------------788
CACNA1GFNLLVAILVEGFQ-AEEISKREDASGQL-S>C<IQL-PVDSQGGDANKS------------ES1001
CACNA1HFNLLVAILVEGFQ-AEGDANRSDTDEDKTS>V<HFEEDFHKL---------------------1045
CACNA1IFNLLVAILVEGFQAEGDAN-RSYSDEDQSS>S<NIE-EFDKLQE-------------------893
CACNA1SLNVFLAIAVDNLAEAESLTSAQKAKAEE-K>K<RRK-MSKGLPDKS-----------------694
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 958 for SCN5A.