Paralogue Annotation for SCN5A residue 697

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 697
Reference Amino Acid: W - Tryptophan
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 697

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HG773DEpilepsy, childhood absenceMedium6 12891677, 16883519

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-------------------WNR-LAQRYLI>W<ECCPLWMSIKQGVKLVVMDPFTDLTITMCI727
SCN1A-------------------WYK-FSNIFLI>W<DCSPYWLKVKHVVNLVVMDPFVDLAITICI778
SCN2A-------------------WYK-FANMCLI>W<DCCKPWLKVKHLVNLVVMDPFVDLAITICI769
SCN3A-------------------WYR-FANVFLI>W<DCCDAWLKVKHLVNLIVMDPFVDLAITICI770
SCN4A-------------------WYK-CAHKVLI>W<NCCAPWLKFKNIIHLIVMDPFVDLGITICI588
SCN7A-------------------WYK-FAKTFLI>W<NCSPCWLKLKEFVHRIIMAPFTDLFLIICI515
SCN8A-------------------WYK-FANTFLI>W<ECHPYWIKLKEIVNLIVMDPFVDLAITICI763
SCN9A-------------------WYR-FAHKFLI>W<NCSPYWIKFKKCIYFIVMDPFVDLAITICI743
SCN10A-------------------LTS-LSQKYLI>W<DCCPMWVKLKTILFGLVTDPFAELTITLCI675
SCN11A-------------------GEN-LASKYLV>W<NCCPQWLCVKKVLRTVMTDPFTELAITICI587
CACNA1A-------------------SIK-SAKLENS>T<FFHKKERRMRFYIRRMVKTQAFYWTVLSLV497
CACNA1B-------------------SLK-SGKTESS>S<YFRRKEKMFRFFIRRMVKAQSFYWVVLCVV493
CACNA1C-------------------AHR-ISKSKFS>R<YWRRWNRFCRRKCRAAVKSNVFYWLVIFLV534
CACNA1D-------------------GQA-ISKSKLS>R<RWRRWNRFNRRRCRAAVKSVTFYWLVIVLV553
CACNA1E-------------------SIK-SAKVDGV>S<YFRHKERLLRISIRHMVKSQVFYWIVLSLV486
CACNA1F-------------------LNK-IMKTRVC>R<RLRRANRVLRARCRRAVKSNACYWAVLLLV539
CACNA1G---R------------------SLGPDAEP>S<SVLAFWRLICDTFRKIVDSKYFGRGIMIAI753
CACNA1HRATDTPGPG---PGSPQRRAQQRAAPGE-P>G<WMGRLWVTFSGKLRRIVDSKYFSRGIMMAI803
CACNA1I---SEDGASSELG--KEEEEEE-QADGA-V>W<LCGDVWRETRAKLRGIVDSKYFNRGIMMAI650
CACNA1S-------------------LNK-I--IQFI>R<HWRQWNRIFRWKCHDIVKSKVFYWLVILIV442
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 697 for SCN5A.