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Table 1 Summary of reported variants in TAT gene of patients with tyrosinemia type II

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.Cys151Tyr (c.452G > A)

Missense

Exon 5

4

Tunisia

Bouyacoub et al. [5], Charfeddine et al. [6]

p.Trp291LeufsX6(c.869dupG)

Frameshift

Exon 8

1

Tunisia

Bouyacoub et al. [5],

p.Leu273Pro (c.914 T > C)

Missense

Exon 8

4

Tunisia

Charfeddine et al. [6]

p.Arg417Gln (c.1250G > A)

Missense

Exon 12

2

Croatia

Culic et al. [7], Peña-Quintana et al. [14]

p.Leu312Pro (c.935 T > C)

Missense

Exon 9

2

Turkey

Gokay et al. [8]

p.Thr408Met (c.1223C > T)

Missense

Exon 11

2

Turkey

Gokay et al. [8]

p.Leu405SerfsX411 (c.1213delCinsAG)

Frameshift

Exon 11

1

Spain

Legarda et al. [10]

p.Arg417Ter (c.1249C > T)

Nonsense

Exon 12

3

Palestinian Arab, France

Maydan et al. [11], Natt et al. [12]

p.Thr408Thr (c.1224G > T)

Silent (missplicing by exon 11 skipping)

Exon 11

7

Palestinian Arab

Maydan et al. [11]

p.Asp149AspfsX28 (c.446_ 447insA)

Frameshift

Exon 4

2

Denmark

Pasternack et al. [13]

p.Pro220Ser (c.658C > T)

Missense

Exon 5

2

Denmark

Pasternack et al. [13]

p.Arg57Ter

Nonsense

Exon 2

10

Italy, Scottish, USA

Peña-Quintana et al. [14], Huhn et al. [9], Natt et al. [12]

p.Arg119Trp

Missense

Exon 4

2

Italy

Peña-Quintana et al. [14], Huhn et al. [9]

p.Arg433Trp (c.1297C > T)

Missense

Exon 12

4

USA, Germany

Peña-Quintana et al. [14], Meissner et al. [15], Huhn et al. [9]

P.Lys280Arg

Missense

Exon 8

1

USA

Peña-Quintana et al. [14]

p.Leu76Gln

Missense

Exon 2

1

Canada French

Peña-Quintana et al. [14]

p.Ala147Val

Missense

Exon 5

2

French, Switzerland

Peña-Quintana et al. [14]

p.Thr209Iso

Missense

Exon 6

1

French

Peña-Quintana et al. [14]

p.Arg297Ter

Nonsense

Exon 8

2

Lebanon

Peña-Quintana et al. [14]

P.Ala237Pro

Missense

Exon 7

1

North Ireland

Peña-Quintana et al. [14]

p.Asp389Asn

Missense

Exon 11

2

North Ireland, England

Peña-Quintana et al. [14]

p.Met375Arg

Missense

Exon 11

1

Switzerland

Peña-Quintana et al. [14]

p.Pro406Leu

Missense

Exon 11

4

Spain (Gran Canaria), Spain

Peña-Quintana et al. [14]

p.Gly114Ala

Missense

Exon 4

2

Spain (Gran Canaria), Spain

Peña-Quintana et al. [14]

p.Gln324His

Missense

Exon 9

1

Spain

Peña-Quintana et al. [14]

p.Leu201Arg

Missense

Exon 6

1

French

Huhn et al. [9]

p.Arg433Gln

Missense

Exon 12

3

Scottish, USA

Huhn et al. [9]

c.1262delCA

Frameshift

Exon 12

1

Japan

Minami-Hori et al. [16]

p.Ser223Ter

Nonsense

Exon 6

1

Japan

Natt et al. [12]

p.Asp80Glu

Splice site

Exon 3

1

Japan

Natt et al. [12]

p.Gly362Val

Missense

Exon 10

1

France

Natt et al. [12]

p.Glu304Asn

Splice site

Exon 8

1

France

Natt et al. [12]

c.177_178insT;V60CfsX33

Frameshift

Exon 2

1

Brazil

Soares et al. [17]