A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1.

doi:10.1074/jbc.273.14.7807

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Article

A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1.

The Journal of biological chemistry - 3 Apr 1998

Whiteman P, Downing A K, Smallridge R, Winship P R, Handford P A

Abstract excerpt

The calcium-binding epidermal growth factor-like (cbEGF) domain is a common motif found in extracellular proteins. A mutation that changes a highly conserved Gly residue to Ser in this domain has been identified both in the factor IX (FIX) and fibrillin-1 genes, where it is associated with relati...

Topics

Amino Acid Substitution
Epidermal Growth Factor
Factor IX
Fibrillin-1
Fibrillins
Glycine
Humans
Microfilament Proteins
Mutation
Protein Folding
Serine

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