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Results for the Protein: NP_775113
27765080
825

calpain-3 isoform e [Homo sapiens]

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH
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Default View:

EFh - smart00054
EFh - cd00051
efhand - pfam00036


RefSeq Protein: NP_775113
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
efhandpfam000364.5e-053159
efhandpfam000360.00016189
EFhsmart000545.9e-053159
EFhsmart000540.000196189

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM114240.0001 Diseasep.ARG104GLNMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH



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