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Results for the Protein: Q8IU89
322510043

CERS3_HUMAN RecName: Full=Ceramide synthase 3; Short=CerS3; AltName: Full=Dihydroceramide synthase 3; AltName: Full=LAG1 longevity assurance homolog 3

Known Diseases associated with this Protein:
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
1
3
1
2
1
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Default View:

LAG1 - COG5058
homeodomain - cd00086
TLC - smart00724
TRAM_LAG1_CLN8 - pfam03798


Swiss-Prot Protein: Q8IU89
Identical to: NP_849164
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LAG1COG50584.5e-071358
TRAM_LAG1_CLN8pfam037983.3e-52131324
TLCsmart007241.4e-59130331

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2439928 Polymorphismp.ARG370GLYN/A
Swiss-ProtVAR_057276Polymorphismp.ASP342GLYN/A
dbSNPrs60405735 Polymorphismp.TYR45CYSN/A
OMIM615276.0002 Diseasep.TRP15ARGICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9



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