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 | |
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] |