Paralogue Annotation for SCN5A residue 1059

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1059
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1059

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HE1170KIdiopathic epilepsy, generalisedLow2 17696120

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.



SCN5AVPIAVAESD------TDD------------>Q<EED---------------------------1062
SCN1AVPIAVGESD------FEN------------>L<NTE---------------------------1130
SCN2AVPIAVGESD------FEN------------>L<NTE---------------------------1120
SCN3AVPIAVGESD------FEN------------>L<NTE---------------------------1118
SCN4AVPIASEESD------LEM------------>P<TEE---------------------------939
SCN7AVPIASGESD------IEN------------>L<DNK---------------------------851
SCN8AVPIAVGESD------FEN------------>L<NTE---------------------------1111
SCN9AVPIAPGESD------LEN------------>M<NAE---------------------------1093
SCN10AVPIAEGESD------LDD------------>L<EDDGGEDAQ----SFQQEVIPKGQQE-QLQ1034
SCN11AAPLAEEEDD------VEF------------>S<GED---------------------------932
CACNA1ASRSGSPRTG------ADGEHRRHRAHRR-->P<GEEGP-EDKAE--RRARHREGSRPARGG-E991
CACNA1BHRRGSPEEA------AEREPRRHRAHRH-->Q<DPSKE-CAGAKGERRARHRG-G--PR---A965
CACNA1C------------------------EEKIEL>K<SIT---------------------ADG---813
CACNA1D------------------------------>N<QIA---------------------NSD---820
CACNA1ESQRRSRHRRVRTEGKESSSASRSRSASQER>S<LDEAM-PTEGE--KDHELRGNHG-A----K969
CACNA1F------------------------------>-<------------------------------
CACNA1GSPSGERRSL------LSG------------>E<GQESQ-DEEES--SEEERASPAG----SD-1157
CACNA1HGQCGERESL------LSG------------>E<GKGST-DDEAE--DGRAAPGPRA----TP-1192
CACNA1I-PSAEHESL------LSA------------>E<RGGGARVCE----VAADEGPPRAAPL-HTP1035
CACNA1S------------------------------>E<QKP---------------------KGE---712
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1059 for SCN5A.