Paralogue Annotation for SCN5A residue 1742

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1742
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1742

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1756GMyoclonic epilepsy of infancyHigh5 19563458
SCN9AC1719RCongenital indifference to painHigh5 20692858

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.



SCN5ALSPILNTGPPYCDPTLPN-S-NGSRGD--->C<GSPAVGILFFTTYIIISFLIVVNMYIAIIL1772
SCN1ALAPILNSKPPDCDPNKVN-PGSSVKGD--->C<GNPSVGIFFFVSYIIISFLVVVNMYIAVIL1786
SCN2ALAPILNSGPPDCDPDKDH-PGSSVKGD--->C<GNPSVGIFFFVSYIIISFLVVVNMYIAVIL1776
SCN3ALAPILNSAPPDCDPDTIH-PGSSVKGD--->C<GNPSVGIFFFVSYIIISFLVVVNMYIAVIL1771
SCN4ALNPILNSGPPDCDPNLEN-PGTSVKGD--->C<GNPSIGICFFCSYIIISFLIVVNMYIAIIL1598
SCN7ALDAIFNSKWSDCDPDKIN-PGTQVRGD--->C<GNPSVGIFYFVSYILISWLIIVNMYIVVVM1496
SCN8ALLPILN-RPPDCSLDKEH-PGSGFKGD--->C<GNPSVGIFFFVSYIIISFLIVVNMYIAIIL1766
SCN9ALAPILNSKPPDCDPKKVH-PGSSVEGD--->C<GNPSVGIFYFVSYIIISFLVVVNMYIAVIL1749
SCN10ALSPILNTGPPYCDPNLPN-S-NGTRGD--->C<GSPAVGIIFFTTYIIISFLIMVNMYIAVIL1722
SCN11ALSPMLRSKES-CN---------SSSEN--->C<HLPGIATSYFVSYIIISFLIVVNMYIAVIL1604
CACNA1AMLSCLSG--KPCDKNSGIL-----T-R--E>C<GN-EFAYFYFVSFIFLCSFLMLNLFVAVIM1811
CACNA1BMLSCLSN--QACDE---Q------A-NATE>C<GS-DFAYFYFVSFIFLCSFLMLNLFVAVIM1709
CACNA1CMLACMPG--KKCAPESEP-SNSTEGETP-->C<GS-SFAVFYFISFYMLCAFLIINLFVAVIM1476
CACNA1DMLACLPG--KLCDPESDY--NPGE-EYT-->C<GS-NFAIVYFISFYMLCAFLIINLFVAVIM1484
CACNA1EMLSCLGE--KGCEPDTTAPSGQNEN-E--R>C<GT-DLAYVYFVSFIFFCSFLMLNLFVAVIM1723
CACNA1FMLASLPG--NRCDPESDF--GPGE-EFT-->C<GS-NFAIAYFISFFMLCAFLIINLFVAVIM1441
CACNA1GMKDTLRD----CDQEST-----C------->Y<NT-VISPIYFVSFVLTAQFVLVNVVIAVLM1851
CACNA1HMKDTLRE----CSREDKH----C---LS-->Y<LP-ALSPVYFVTFVLVAQFVLVNVVVAVLM1860
CACNA1IMKDTLRD----CTHDERS----C---LS-->S<LQ-FVSPLYFVSFVLTAQFVLINVVVAVLM1730
CACNA1SLLACSYG--KLCDPESDY--APGE-EYT-->C<GT-NFAYYYFISFYMLCAFLVINLFVAVIM1381
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1742 for SCN5A.