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Table 2 Summary of reported variants in HPPD gene of patients with tyrosinemia type III

From: The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)

Variant

Variant type

Exon/Intron

Number of patients

Country/Ethnicity

Study

p.Ala33Thr (c.97G > A)

Missense

Exon 4

2

Portugal

Barroso et al. [4]

IVS11 + 1G > A

Splice site

Intron 11

1

Turkey

Heylen et al. [18]

p.Tyr200Ter (c.11266C > G)

Nonsense

Exon 10

1

Sweden

Rüetschi et al. [19]

p.Ile335Met (c.18470C > G)

Missense

Exon 13

1

Sweden

Rüetschi et al. [19]

p.Tyr160Cys (c.479A > G)

Missense

Exon 8

3

Sweden, Poland

Rüetschi et al. [19], Szymanska et al. [20]

p.Tyr258Ter (c.11558T > G)

Nonsense

Exon 11

2

Sweden

Rüetschi et al. [19]

p.Ile267Phe (c.11583A > T)

Missense

Exon 11

2

Sweden

Rüetschi et al. [19]

p.Ala268Val (c.803C > T)

Missense

Exon 11

1

Japan

Tomoeda et al. [21]

c.759 + 1 G > A

Missense

Intron 10

1

Iran

Vakili et al. [22]

p.Gly154Ser (c.460G > A)

Missense

Exon 8

1

China

Zhao et al. [23]

p.Gly83Ter (c.248delG)

Frameshift

Exon 5

1

China

Zhao et al. [23]