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Results for the Protein: Q9H5K3
74761446

SG196_HUMAN RecName: Full=Protein O-mannose kinase; Short=POMK; AltName: Full=Protein kinase-like protein SgK196; AltName: Full=Sugen kinase 196

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A12 (MDDGA12)
2
5
0
0
7
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Default View:

PTKc_Musk - cd05050
Pkinase_Tyr - pfam07714
Pkinase - pfam00069


Swiss-Prot Protein: Q9H5K3
Identical to: NP_115613
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pkinasepfam000690.0003781330
Pkinase_Tyrpfam077140.0008581334

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069626Diseasep.GLN258ARGMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12)
Swiss-ProtVAR_069625Diseasep.LEU137ARGMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12)
Swiss-ProtVAR_041376Polymorphismp.MET342ILEN/A
Swiss-ProtVAR_041375Polymorphismp.MET301THRN/A
Swiss-ProtVAR_041372Polymorphismp.SER48PRON/A
Swiss-ProtVAR_041373Polymorphismp.TYR140PHEN/A
Swiss-ProtVAR_041374Polymorphismp.VAL254METN/A



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