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Results for the Protein: NP_001171115
294997308

dystroglycan preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  FAMILY)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (1
1
2
1
2
0
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Default View:

CADG - smart00736
DAG1 - pfam05454




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CADGsmart007365.5e-30500601
DAG1pfam054543.3e-217606895

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs114357468 Polymorphismp.SER744THRN/A
dbSNPrs2131107 Polymorphismp.SER14TRPN/A
OMIM128239.0001 Diseasep.THR192METMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (1||family)



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