2e6q
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Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1
Structural highlights
DiseaseOBSL1_HUMAN Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:612921. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.[1] FunctionEvolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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