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Results for the Protein: NP_775111
27765076
825

calpain-3 isoform d [Homo sapiens]

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH
2
0
2
0
0
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Default View:

Calpain_III - pfam01067
calpain_III - smart00720
Calpain_III - cd00214
EFh - smart00054
efhand - pfam00036
EFh - cd00051


RefSeq Protein: NP_775111
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EFhcd000517.5e-12184240
Calpain_IIIpfam010675.4e-08168
efhandpfam000364.5e-05184212
efhandpfam000360.0001214242
calpain_IIIsmart007201.9e-10170
EFhsmart000545.9e-05184212
EFhsmart000540.00019214242

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM114240.0001 Diseasep.ARG257GLNMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH
OMIM114240.0002 Diseasep.ARG60GLNMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A



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