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Results for the Protein: Q14118
229462879

DAG1_HUMAN RecName: Full=Dystroglycan; AltName: Full=Dystrophin-associated glycoprotein 1; Contains: RecName: Full=Alpha-dystroglycan; Short=Alpha-DG; Contains: RecName: Full=Beta-dystroglycan; Short=Beta-DG; Flags: Precursor

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C9 (MDDGC9)
1
1
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0
2
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Default View:

CADG - smart00736
DAG1 - pfam05454


Swiss-Prot Protein: Q14118
   Default View:



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 ↕
Swiss-ProtVAR_024335Polymorphismp.SER14TRPN/A
Swiss-ProtVAR_065266Diseasep.THR192METMuscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9)



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