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Table 2 Prediction of the function of LDLR gene variants in the proband

From: Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia

Numbers

DNA change

Protein

P-domain

Clinical classification

Affects function

1

c.1413A>G

p. R471R

LDLR

class B2

Benign

Does not affect function

2

c.1617C>T

p. P539P

LDLR

class B4

Benign

Does not affect function

3

c.2054C>T

p. P685L

EGF-like 3

Likely pathogenic

Probably affects function

4

c.2232A>G

p. R744R

 -

 -

Unreported

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Lipids in Health and Disease

ISSN: 1476-511X