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 |