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Literature summary for 3.4.22.54 extracted from

  • Haeffner, K.; Speer, A.; Huebner, C.; Voit, T.; Oexle, K.
    A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A (1998), Hum. Mutat., 1, S298-S300.
No PubMed abstract available

Protein Variants

Protein Variants Comment Organism
additional information a small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens a small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A ?
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?

Organism

Organism UniProt Comment Textmining
Homo sapiens P20807
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-

Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
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Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information a small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A Homo sapiens ?
-
?