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Table 1 Biochemically characterized APOB missense mutations in FHBL

From: Recent progress in understanding protein and lipid factors affecting hepatic VLDL assembly and secretion

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]

  1. n.d, not determined