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 | |
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 | |
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 | |
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 | |
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] |