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Table 5 Mutations identified in patients with ASS, ASL, CPS1 and NAGS deficiencies

From: Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Patient n°/ [reference] Gene Nucleotide Protein Onset Neurologic damage
1 ASS c.256C > T / c.256C > T p.Arg86Cys / p.Arg86Cys Late No
3 ASS c.206 T > C / c.206 T > C p.Val69Ala / p.Val69Ala Neonatal Yes
18 ASS c.557 T > G / c.557 T > G* p.Met186Arg / p.Met186Arg* Neonatal Yes
24 ASS c.970G > A / c.970G > A p.Gly324Ser / p.Gly324Ser Late No
41 ASS c.971G > T / c.1168G > A p.Gly324Val / p.Gly390Arg Neonatal Yes
46 ASS c.1168G > A /c.1168G > A p.Gly390Arg / p.Gly390Arg Neonatal Yes
66 [28] ASS c.350G > A / c.1168G > A p.Gly117Asp / p.Gly390Arg Late Yes
84 ASS c.970G > A / c.271A > G* p.Gly324Ser / p.Thr91Ala* A, NBS No
85 ASS c.256C > T / c.256C > T p.Arg86Cys / p.Arg86Cys A, NBS No
86 ASS c.256C > T / c.256C > T p.Arg86Cys / p.Arg86Cys Late No
96D ASS c.1168G > A /c.1168G > A p.Gly390Arg / p.Gly390Arg Neonatal -
98 [28] ASS c.323G > T + c.356C > T / NF p.Arg108Leu + p.Thr119Ile / NF Neonatal Yes
99 ASS c.892delG / c.1168G > A p.Glu298Argfs*/ p.Gly390Arg Neonatal Yes
101 ASS c.919C > T / NF p.Arg307Cys / NF A, NBS No
9 ASL c.133 T > A* / c.947G > A* p.Tyr45Asn* / p.Gly316Glu* Late Yes
29 ASL c.623C > G / c.623C > G* p.Pro208Arg / p.Pro208Arg* Late Yes
30 ASL c.623C > G / c.623C > G p.Pro208Arg / p.Pro208Arg Late Yes
39 ASL c.338G > A / c.338G > A p.Arg113Gln /p.Arg113Gln A, Prenatal Yes
47 ASL c.532G > A /c.901G > A* p.Val178Met / p.Gly301Arg* Late Yes
71 ASL c.1143 + 1G > T / c.1143 + 1G > T - Neonatal Yes
81 ASL c.1135C > T/c.1367G > A* p.Arg379Cys / p.Arg456Gln* A, NBS No
19 CPS1 c.2549G > T*/ NF p.Arg850Leu* / NF Late Yes
93 [30] NAGS c.499A > G* / c.916-2A > G* p.Met167Val */ Late No
  1. In bold: *Mutations not published in the public database HGMD [31].
  2. A: asymptomatic; NBS: newborn screening; D: Dead in the neonatal period; NF: not found.
  3. Patients 29 and 30 are siblings.
  4. [28],[30]: references of primary publications where these patients were published.