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Results for the Protein: NP_775110
27765074
825

calpain-3 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH
6
3
6
3
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

CysPc - smart00230
CysPc - cd00044
Peptidase_C2 - pfam00648
Calpain_III - cd00214
Calpain_III - pfam01067
calpain_III - smart00720
EFh - smart00054
efhand - pfam00036
EFh - cd00051


RefSeq Protein: NP_775110
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Calpain_IIIcd002143.2e-93379536
EFhcd000517.5e-12604660
Peptidase_C2pfam006482.7e-23774369
Calpain_IIIpfam010672.2e-94380532
efhandpfam000364.5e-05604632
efhandpfam000360.0001634662
CysPcsmart002309.4e-21761377
calpain_IIIsmart007201.2e-89381534
EFhsmart000545.9e-05604632
EFhsmart000540.00019634662

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17592 Polymorphismp.ALA160GLYN/A
dbSNPrs1801449 Polymorphismp.ALA236THRN/A
dbSNPrs35889956 Polymorphismp.THR184METN/A
OMIM114240.0010 Diseasep.ARG442GLNMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
OMIM114240.0002 Diseasep.ARG524GLNMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
OMIM114240.0001 Diseasep.ARG677GLNMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH
OMIM114240.0003 Diseasep.ARG110TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
OMIM114240.0005 Diseasep.PRO271LEUMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
OMIM114240.0004 Diseasep.SER86PHEMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A



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