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. 2010 Apr 27;7:35. doi: 10.1186/1743-7075-7-35

Table 1.

Biochemically characterized APOB missense mutations in FHBL

Mutation Predicted location Hepatosteatosis Secretion Retention Reference
A31P β-barrel yes <5% normal Golgi [50]
G275S α-helix yes 60% normal n.d. [50]
L324M α-helix yes 50% normal n.d. [50]
L343V α-helix yes 50% normal ER [48]
R463W α-helix yes 50% normal ER [47]
G912D β-sheet yes nearly normal n.d. [50]
G945S β-sheet yes 50% normal n.d. [50]

n.d, not determined