Paralogue Annotation for SCN5A residue 932

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 932
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 932

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN985IMyoclonic epilepsy of infancyHigh9 12566275
SCN2AN976KEpileptic encephalopathyHigh9 26291284

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.



SCN5AMEV-----SGQSLCLLVFLLVMVIGNLVVL>N<LFLALLLSSFS-ADNLTAP-DEDREM-NNL959
SCN1AMEV-----AGQAMCLTVFMMVMVIGNLVVL>N<LFLALLLSSFS-ADNLAAT-DDDNEM-NNL1012
SCN2AMEV-----AGQTMCLTVFMMVMVIGNLVVL>N<LFLALLLSSFS-SDNLAAT-DDDNEM-NNL1003
SCN3AMEV-----AGQTMCLIVFMLVMVIGNLVVL>N<LFLALLLSSFS-SDNLAAT-DDDNEM-NNL1004
SCN4AMEV-----AGQAMCLTVFLMVMVIGNLVVL>N<LFLALLLSSFS-ADSLAAS-DEDGEM-NNL822
SCN7AMEV-----AGQSWCIPFYLMVILIGNLLVL>Y<LFLA-LVSSFS-SCKDVTA-EENNEA-KNL748
SCN8AMEV-----AGQAMCLIVFMMVMVIGNLVVL>N<LFLALLLSSFS-ADNLAAT-DDDGEM-NNL997
SCN9AMEV-----AGQAMCLIVYMMVMVIGNLVVL>N<LFLALLLSSFS-SDNLTAI-EEDPDA-NNL977
SCN10AMEV-----GQKSICLILFLTVMVLGNLVVL>N<LFIALLLNSFS-ADNLTAP-EDDGEV-NNL910
SCN11AMQEAN---ASSSLCVIVFILITVIGKLVVL>N<LFIALLLNSFS-NEERNGNLEGEARK-TKV832
CACNA1AIKSQGGV-QGGMVFSIYFIVLTLFGNYTLL>N<VFLAIAVDNLANAQELTKDEQEEEEA-ANQ736
CACNA1BIESQGGV-SKGMFSSFYFIVLTLFGNYTLL>N<VFLAIAVDNLANAQELTKDEEEMEEA-ANQ732
CACNA1CIMAYGGPSFPGMLVCIYFIILFICGNYILL>N<VFLAIAVDNLADAESLTSAQKEEEEE-KER775
CACNA1DIMAYGGPSSSGMIVCIYFIILFICGNYILL>N<VFLAIAVDNLADAESLNTAQKEEAEE-KER794
CACNA1EIRSQGGV-SSGMWSAIYFIVLTLFGNYTLL>N<VFLAIAVDNLANAQELTKDEQEEEEA-FNQ725
CACNA1FIMAYGGPFFPGMLVCIYFIILFICGNYILL>N<VFLAIAVDNLASGDA-GTAKDKGGEK-SNE779
CACNA1GMAS-T-S----SWAALYFIALMTFGNYVLF>N<LLVAILVEGFQ-AEEISKREDASGQL-SCI985
CACNA1HMAS-T-S----SWAALYFVALMTFGNYVLF>N<LLVAILVEGFQ-AEGDANRSDTDEDKTSVH1037
CACNA1IMAS-T-S----PWASLYFVALMTFGNYVLF>N<LLVAILVEGFQAEGDAN-RSYSDEDQSSSN884
CACNA1SIMAYGGPSYPGMLVCIYFIILFVCGNYILL>N<VFLAIAVDNLAEAESLTSAQKAKAEE-KKR683
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 932 for SCN5A.