Paralogue Annotation for SCN5A residue 1711

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1711
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1711

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AE1757KEpisodic ataxia 2Medium9 11176968
SCN1AA1724PIntractable epilepsyHigh9 23195492

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.



SCN5AAG-----IDDMFNFQTFANSMLCLFQITTS>A<GWDGLLSPILNTGPPYCDPTLPN-S-NGSR1739
SCN1AVG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSKPPDCDPNKVN-PGSSVK1753
SCN2AVG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSGPPDCDPDKDH-PGSSVK1743
SCN3AAG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSAPPDCDPDTIH-PGSSVK1738
SCN4ASG-----IDDMFNFETFGNSIICLFEITTS>A<GWDGLLNPILNSGPPDCDPNLEN-PGTSVK1565
SCN7AAG-----INDVSNFETFGNSMLCLFQVAIF>A<GWDGMLDAIFNSKWSDCDPDKIN-PGTQVR1463
SCN8AAG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLLPILN-RPPDCSLDKEH-PGSGFK1733
SCN9ADG-----INDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSKPPDCDPKKVH-PGSSVE1716
SCN10AAG-----IDDMFNFQTFANSMLCLFQITTS>A<GWDGLLSPILNTGPPYCDPNLPN-S-NGTR1689
SCN11ASG-----IDDIFNFKTFASSMLCLFQISTS>A<GWDSLLSPMLRSKES-CN---------SSS1571
CACNA1ASDEDEFQITEHNNFRTFFQALMLLFRSATG>E<AWHNIMLSCLSG--KPCDKNSGIL-----T1779
CACNA1BTS-----INRHNNFRTFLQALMLLFRSATG>E<AWHEIMLSCLSN--QACDE---Q------A1675
CACNA1CTE-----INRNNNFQTFPQAVLLLFRCATG>E<AWQDIMLACMPG--KKCAPESEP-SNSTEG1443
CACNA1DNQ-----INRNNNFQTFPQAVLLLFRCATG>E<AWQEIMLACLPG--KLCDPESDY--NPGE-1451
CACNA1ESH-----INRHNNFRSFFGSLMLLFRSATG>E<AWQEIMLSCLGE--KGCEPDTTAPSGQNEN1691
CACNA1FTQ-----INRNNNFQTFPQAVLLLFRCATG>E<AWQEIMLASLPG--NRCDPESDF--GPGE-1408
CACNA1GHP--CEGLGRHATFRNFGMAFLTLFRVSTG>D<NWNGIMKDTLRD----CDQEST-----C--1821
CACNA1HNP--CEGLSRHATFSNFGMAFLTLFRVSTG>D<NWNGIMKDTLRE----CSREDKH----C--1828
CACNA1INP--CEGMSRHATFENFGMAFLTLFQVSTG>D<NWNGIMKDTLRD----CTHDERS----C--1698
CACNA1STQ-----INRNNNFQTFPQAVLLLFRCATG>E<AWQEILLACSYG--KLCDPESDY--APGE-1348
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1711 for SCN5A.