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Results for the Protein: NP_001129169
208973226

alpha-sarcoglycan isoform 2 precursor [Homo sapiens]

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

Sarcoglycan_2 - pfam05510
CADG - smart00736




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sarcoglycan_2pfam055102.7e-786263
CADGsmart007363e-1929130

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600119.0003 Diseasep.ARG77CYSMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
OMIM600119.0001 Diseasep.ARG98HISMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
OMIM600119.0007 Diseasep.ARG192TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
OMIM600119.0006 Diseasep.TYR134TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
OMIM600119.0002 Diseasep.VAL175ALAMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D



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