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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 CPS1 P31327 p.Ala43Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
2 CPS1 P31327 p.Gly58Asp - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
3 CPS1 P31327 p.Ser65Phe - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
4 CPS1 P31327 p.Val71Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
5 CPS1 P31327 p.Gly79Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.997 (D)
N
6 CPS1 P31327 p.Pro87Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
7 CPS1 P31327 p.Tyr89Asp - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
8 CPS1 P31327 p.Ser123Phe - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.999 (D)
N
9 CPS1 P31327 p.Asp165Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
10 CPS1 P31327 p.Tyr212Asn - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.931 (D)
N
11 CPS1 P31327 p.Asp224Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
12 CPS1 P31327 p.Arg233Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
13 CPS1 P31327 p.His243Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
14 CPS1 P31327 p.Gly258Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
15 CPS1 P31327 p.Gly263Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
16 CPS1 P31327 p.Lys280Asn - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.081 (N)
N
17 CPS1 P31327 p.Gly301Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
18 CPS1 P31327 p.Ala304Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
19 CPS1 P31327 p.Gly317Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
20 CPS1 P31327 p.His337Arg rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.999 (D)
N
21 CPS1 P31327 p.Thr344Ala rs1047883 variant of unknown significance
Detail
(-)
0.148 (N)
N
22 CPS1 P31327 p.Thr344Ser rs1047883 variant of unknown significance
Detail
(-)
0.002 (N)
N
23 CPS1 P31327 p.Asp358His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
24 CPS1 P31327 p.Pro382Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
25 CPS1 P31327 p.Tyr389Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
26 CPS1 P31327 p.Leu390Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
27 CPS1 P31327 p.Gly401Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
28 CPS1 P31327 p.Gly431Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
29 CPS1 P31327 p.Gly432Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
30 CPS1 P31327 p.Ala438Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
31 CPS1 P31327 p.Ala438Thr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
32 CPS1 P31327 p.Lys450Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
33 CPS1 P31327 p.Val457Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.964 (D)
N
34 CPS1 P31327 p.Thr471Asn - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
35 CPS1 P31327 p.Ala498Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
36 CPS1 P31327 p.Val531Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
37 CPS1 P31327 p.Val531Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
38 CPS1 P31327 p.Thr544Met - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
39 CPS1 P31327 p.Asp578Asn rs142916171 variant of unknown significance
Detail
(-)
0.105 (N)
N
40 CPS1 P31327 p.Arg587Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
41 CPS1 P31327 p.Arg587Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
42 CPS1 P31327 p.Arg587His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
43 CPS1 P31327 p.Ala589Thr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
44 CPS1 P31327 p.Gly593Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
45 CPS1 P31327 p.Ser597Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
46 CPS1 P31327 p.Val622Met - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
47 CPS1 P31327 p.Gly628Asp - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
48 CPS1 P31327 p.Ile632Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
49 CPS1 P31327 p.Arg638Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
50 CPS1 P31327 p.Ala640Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
51 CPS1 P31327 p.Cys648Tyr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
52 CPS1 P31327 p.Glu651Lys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
53 CPS1 P31327 p.Asp654Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
54 CPS1 P31327 p.Asn674Lys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
55 CPS1 P31327 p.Asn674Ile - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
56 CPS1 P31327 p.Gln678Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.927 (D)
N
57 CPS1 P31327 p.Asn698Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
58 CPS1 P31327 p.Asn716Lys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
59 CPS1 P31327 p.Arg718Lys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
60 CPS1 P31327 p.Arg721Gln - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
61 CPS1 P31327 p.Ala724Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
62 CPS1 P31327 p.Ala726Thr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
63 CPS1 P31327 p.Ser765Thr rs150012540 variant of unknown significance
Detail
(-)
0.998 (D)
N
64 CPS1 P31327 p.Asp767Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
65 CPS1 P31327 p.Pro774Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
66 CPS1 P31327 p.Arg780His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.999 (D)
N
67 CPS1 P31327 p.Met792Ile - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
68 CPS1 P31327 p.Arg803Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
69 CPS1 P31327 p.Arg803Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
70 CPS1 P31327 p.Arg803Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
71 CPS1 P31327 p.Phe805Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
72 CPS1 P31327 p.Phe805Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
73 CPS1 P31327 p.Gln810Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
74 CPS1 P31327 p.Arg814Trp - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
75 CPS1 P31327 p.Cys816Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
76 CPS1 P31327 p.Leu843Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.919 (D)
N
77 CPS1 P31327 p.Arg850His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
78 CPS1 P31327 p.Arg850Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
79 CPS1 P31327 p.Lys875Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.339 (N)
N
80 CPS1 P31327 p.Gly911Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
81 CPS1 P31327 p.Gly911Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
82 CPS1 P31327 p.Ser913Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
83 CPS1 P31327 p.Asp914His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
84 CPS1 P31327 p.Asp914Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
85 CPS1 P31327 p.Ser918Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.58 (D)
N
86 CPS1 P31327 p.Arg932Thr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
87 CPS1 P31327 p.Ala949Thr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
88 CPS1 P31327 p.Leu958Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
89 CPS1 P31327 p.Tyr959Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
90 CPS1 P31327 p.Tyr962Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
91 CPS1 P31327 p.Val978Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
92 CPS1 P31327 p.Gly982Asp - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
93 CPS1 P31327 p.Gly982Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
94 CPS1 P31327 p.Gly982Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
95 CPS1 P31327 p.Tyr984His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
96 CPS1 P31327 p.Ile986Thr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
97 CPS1 P31327 p.Gly987Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
98 CPS1 P31327 p.Phe992Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
99 CPS1 P31327 p.Ser998Phe - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
100 CPS1 P31327 p.Asn1016Ser - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
101 CPS1 P31327 p.Pro1017Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
102 CPS1 P31327 p.Thr1022Ile - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
103 CPS1 P31327 p.Glu1034Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
104 CPS1 P31327 p.His1045Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
105 CPS1 P31327 p.Ile1054Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
106 CPS1 P31327 p.Gln1059Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
107 CPS1 P31327 p.Ala1065Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
108 CPS1 P31327 p.Arg1089Cys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
109 CPS1 P31327 p.Arg1089Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
110 CPS1 P31327 p.Gln1103Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
111 CPS1 P31327 p.Val1141Gly - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
112 CPS1 P31327 p.Ala1155Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
113 CPS1 P31327 p.Ala1155Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
114 CPS1 P31327 p.His1195Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.999 (D)
N
115 CPS1 P31327 p.Ser1203Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
116 CPS1 P31327 p.Ser1203Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
117 CPS1 P31327 p.Asp1205Asn - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
118 CPS1 P31327 p.Ile1215Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.204 (N)
N
119 CPS1 P31327 p.Arg1228Gln - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
120 CPS1 P31327 p.Asn1241Lys - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
1 (D)
N
121 CPS1 P31327 p.Glu1255Asp - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
122 CPS1 P31327 p.Arg1262Gln - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
123 CPS1 P31327 p.Arg1262Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
124 CPS1 P31327 p.Phe1266Ser rs1047886 variant of unknown significance
Detail
(-)
1 (D)
N
125 CPS1 P31327 p.Asp1274His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
126 CPS1 P31327 p.Met1283Leu rs1047887 variant of unknown significance
Detail
(-)
0.074 (N)
N
127 CPS1 P31327 p.Cys1327Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
(-)
N
128 CPS1 P31327 p.Ser1331Pro - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
N
129 CPS1 P31327 p.Gly1333Glu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
N
130 CPS1 P31327 p.Arg1371Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
N
131 CPS1 P31327 p.Gly1376Ser - variant of unknown significance
2yvq
A
Detail
0.00 (D)
0.002 (N)
N
132 CPS1 P31327 p.Ala1378Thr - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 CPS1 P31327 p.Thr1391Met - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 CPS1 P31327 p.Leu1398Val - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
N
5 CPS1 P31327 p.Thr1406Asn rs1047891 variant of unknown significance
2yvq
A
Detail
0.00 (D)
0.004 (N)
D ( Predicted by rules : 1 )
3 CPS1 P31327 p.Pro1411Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 CPS1 P31327 p.Pro1439Leu - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
N
4 CPS1 P31327 p.Thr1443Ala - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
N
5 CPS1 P31327 p.Arg1453Trp - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 CPS1 P31327 p.Arg1453Gln - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 CPS1 P31327 p.Pro1462Arg - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
2yvq
A
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 CPS1 P31327 p.Tyr1491His - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
Detail
(-)
0.044 (N)
N