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Results for the Protein: Q9NYJ7
12229810

DLL3_HUMAN RecName: Full=Delta-like protein 3; AltName: Full=Drosophila Delta homolog 3; Short=Delta3; Flags: Precursor

Known Diseases associated with this Protein:
  SPONDYLOCOSTAL DYSOSTOSIS 1 (SCDO1)
  SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
4
4
3
2
3
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Default View:

MNNL - pfam07657
EGF_2 - pfam07974
EGF - smart00181
EGF_CA - smart00179


Swiss-Prot Protein: Q9NYJ7
Identical to: NP_058637
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_2pfam079740.00088220248
EGFsmart001811e-08277310
EGF_CAsmart001790.00041278310
EGFsmart001813.1e-06315351
EGF_CAsmart001790.00021353389
EGFsmart001811.1e-07356389
EGF_CAsmart001793.1e-06391427
EGFsmart001814.9e-05394427
EGF_CAsmart001790.00038429465
EGFsmart001813.9e-07432465

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046782Polymorphismp.ALA115THRN/A
Swiss-ProtVAR_009952Diseasep.GLY385ASPSpondylocostal dysostosis 1 (SCDO1)
Swiss-ProtVAR_046783Polymorphismp.LEU142GLNN/A
dbSNPrs1110627 Polymorphismp.LEU218PRON/A
dbSNPrs8107127 Polymorphismp.PHE172CYSN/A
OMIM602768.0006 Diseasep.ARG238TERSPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
OMIM602768.0003 Diseasep.GLY385ASPSPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
OMIM602768.0008 Diseasep.GLY504ASPSPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE



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