Paralogue Annotation for SCN5A residue 926

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 926
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 926

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG979RMyoclonic epilepsy of infancyHigh9 12566275, 16210358
SCN1AG979VDravet syndrome B ?High9 21248271
SCN1AG979EDravet syndromeHigh9 26096185

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.



SCN5AETMWDCMEV-----SGQSLCLLVFLLVMVI>G<NLVVLNLFLALLLSSFS-ADNLTAP-DEDR954
SCN1AETMWDCMEV-----AGQAMCLTVFMMVMVI>G<NLVVLNLFLALLLSSFS-ADNLAAT-DDDN1007
SCN2AETMWDCMEV-----AGQTMCLTVFMMVMVI>G<NLVVLNLFLALLLSSFS-SDNLAAT-DDDN998
SCN3AETMWDCMEV-----AGQTMCLIVFMLVMVI>G<NLVVLNLFLALLLSSFS-SDNLAAT-DDDN999
SCN4AETMWDCMEV-----AGQAMCLTVFLMVMVI>G<NLVVLNLFLALLLSSFS-ADSLAAS-DEDG817
SCN7AETLWDCMEV-----AGQSWCIPFYLMVILI>G<NLLVLYLFLA-LVSSFS-SCKDVTA-EENN743
SCN8AETMWDCMEV-----AGQAMCLIVFMMVMVI>G<NLVVLNLFLALLLSSFS-ADNLAAT-DDDG992
SCN9AETMWDCMEV-----AGQAMCLIVYMMVMVI>G<NLVVLNLFLALLLSSFS-SDNLTAI-EEDP972
SCN10AENMWACMEV-----GQKSICLILFLTVMVL>G<NLVVLNLFIALLLNSFS-ADNLTAP-EDDG905
SCN11AENMWECMQEAN---ASSSLCVIVFILITVI>G<KLVVLNLFIALLLNSFS-NEERNGNLEGEA827
CACNA1AEVMYDGIKSQGGV-QGGMVFSIYFIVLTLF>G<NYTLLNVFLAIAVDNLANAQELTKDEQEEE731
CACNA1BAVMYHGIESQGGV-SKGMFSSFYFIVLTLF>G<NYTLLNVFLAIAVDNLANAQELTKDEEEME727
CACNA1CSVMYDGIMAYGGPSFPGMLVCIYFIILFIC>G<NYILLNVFLAIAVDNLADAESLTSAQKEEE770
CACNA1DAVMYDGIMAYGGPSSSGMIVCIYFIILFIC>G<NYILLNVFLAIAVDNLADAESLNTAQKEEA789
CACNA1EEVMYNGIRSQGGV-SSGMWSAIYFIVLTLF>G<NYTLLNVFLAIAVDNLANAQELTKDEQEEE720
CACNA1FVVMYDGIMAYGGPFFPGMLVCIYFIILFIC>G<NYILLNVFLAIAVDNLASGDA-GTAKDKGG774
CACNA1GKVLYNGMAS-T-S----SWAALYFIALMTF>G<NYVLFNLLVAILVEGFQ-AEEISKREDASG980
CACNA1HVVLYNGMAS-T-S----SWAALYFVALMTF>G<NYVLFNLLVAILVEGFQ-AEGDANRSDTDE1031
CACNA1IVVLYNGMAS-T-S----PWASLYFVALMTF>G<NYVLFNLLVAILVEGFQAEGDAN-RSYSDE878
CACNA1SSMMYNGIMAYGGPSYPGMLVCIYFIILFVC>G<NYILLNVFLAIAVDNLAEAESLTSAQKAKA678
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 926 for SCN5A.