Paralogue Annotation for SCN5A residue 936

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 936
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 936

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AA799SEpisodic laryngospasm, severe neonatalHigh9 20713951
CACNA1DA769GAutismHigh9 22495309, 24859339, 25620733, 27255217
SCN11AA808GEpisodic pain syndromeHigh9 24207120

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.



SCN5A----SGQSLCLLVFLLVMVIGNLVVLNLFL>A<LLLSSFS-ADNLTAP-DEDREM-NNLQL-A962
SCN1A----AGQAMCLTVFMMVMVIGNLVVLNLFL>A<LLLSSFS-ADNLAAT-DDDNEM-NNLQI-A1015
SCN2A----AGQTMCLTVFMMVMVIGNLVVLNLFL>A<LLLSSFS-SDNLAAT-DDDNEM-NNLQI-A1006
SCN3A----AGQTMCLIVFMLVMVIGNLVVLNLFL>A<LLLSSFS-SDNLAAT-DDDNEM-NNLQI-A1007
SCN4A----AGQAMCLTVFLMVMVIGNLVVLNLFL>A<LLLSSFS-ADSLAAS-DEDGEM-NNLQI-A825
SCN7A----AGQSWCIPFYLMVILIGNLLVLYLFL>A<-LVSSFS-SCKDVTA-EENNEA-KNLQL-A751
SCN8A----AGQAMCLIVFMMVMVIGNLVVLNLFL>A<LLLSSFS-ADNLAAT-DDDGEM-NNLQI-S1000
SCN9A----AGQAMCLIVYMMVMVIGNLVVLNLFL>A<LLLSSFS-SDNLTAI-EEDPDA-NNLQI-A980
SCN10A----GQKSICLILFLTVMVLGNLVVLNLFI>A<LLLNSFS-ADNLTAP-EDDGEV-NNLQV-A913
SCN11AN---ASSSLCVIVFILITVIGKLVVLNLFI>A<LLLNSFS-NEERNGNLEGEARK-TKVQL-A835
CACNA1AGGV-QGGMVFSIYFIVLTLFGNYTLLNVFL>A<IAVDNLANAQELTKDEQEEEEA-ANQKL-A739
CACNA1BGGV-SKGMFSSFYFIVLTLFGNYTLLNVFL>A<IAVDNLANAQELTKDEEEMEEA-ANQKL-A735
CACNA1CGGPSFPGMLVCIYFIILFICGNYILLNVFL>A<IAVDNLADAESLTSAQKEEEEE-KERKK-L778
CACNA1DGGPSSSGMIVCIYFIILFICGNYILLNVFL>A<IAVDNLADAESLNTAQKEEAEE-KERKK-I797
CACNA1EGGV-SSGMWSAIYFIVLTLFGNYTLLNVFL>A<IAVDNLANAQELTKDEQEEEEA-FNQKH-A728
CACNA1FGGPFFPGMLVCIYFIILFICGNYILLNVFL>A<IAVDNLASGDA-GTAKDKGGEK-SNEKDLP783
CACNA1GT-S----SWAALYFIALMTFGNYVLFNLLV>A<ILVEGFQ-AEEISKREDASGQL-SCIQL-P988
CACNA1HT-S----SWAALYFVALMTFGNYVLFNLLV>A<ILVEGFQ-AEGDANRSDTDEDKTSVHFEED1041
CACNA1IT-S----PWASLYFVALMTFGNYVLFNLLV>A<ILVEGFQAEGDAN-RSYSDEDQSSSNIE-E887
CACNA1SGGPSYPGMLVCIYFIILFVCGNYILLNVFL>A<IAVDNLAEAESLTSAQKAKAEE-KKRRK-M686
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 936 for SCN5A.