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Table 2 Identified mutations

From: Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene

Gene

Nucleotide Change

Mutation Type

Effect on Protein

Number of Patients

ACMG

Pathogenicity

Criteria

ABCG5

c.348C > A

Missense

p.Asn116Lys

2

Supporting (PP1)

ABCG5

c.635-1G > A

Splice-cite

NA

2

Very strong (PVS1)

ABCG5

c.1166G > A

Missense

p.Arg389His

5

Moderate (PP1/PP4)

ABCG5

c.1673_1677delCTTTT

Frameshift

p.Pro558GlnfsTer14

1

Very strong (PVS1)

ABCG8

c.55G > C

Missense

p.Asp19His

1

Supporting (PP1)

ABCG8

c.1226A > G

Missense

p.Asn409Ile

1

Supporting (PP1)

ABCG8

c.1256 T > A

Missense

p.Ile419Asn

6

Moderate (PP1)

ABCG8

c.1285A > G

Missense

p.Met429Val

3

Moderate (PP1)

ABCG8

c.1763C > A

Missense

p.Ala588Glu

3

Supporting (PP1)

ABCG8

c.1798 T > G

Missense

p.Phe600Val

2

Supporting (PP1)

  1. ABCG5 ATP-binding cassette sub-family G member 5, ABCG8 ATP-binding cassette sub-family G member 8, ACMG American College of Medical Genetics and Genomics
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Lipids in Health and Disease

ISSN: 1476-511X