This table summarizes the mutations that have been reported
in the literature or found in our lab
No. |
Exon |
Codona |
Nucleotideb change |
Amino acid or other change |
Restriction site alterationc |
(%) Enzyme activity /[%] 15N ammonia
incorporationd |
Comment |
Disease presentatione |
Referencef |
1 |
|
|
delOTC gene |
|
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
2 |
|
|
delExon 1-3 |
|
|
|
|
Neonatal |
Tuchman et al. [1997] |
3 |
Exon 1 |
1 |
c.1A>G |
p.Met1Val |
MboII, SfaNI |
|
|
Female |
Oppliger Leibundgut et al. [1997] |
4 |
|
1 |
c.1A>T |
p.Met1Leu |
MboII, SfaNI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
5 |
|
1 |
c.2T>C |
p.Met1Thr |
SfaNI |
|
|
Female |
Yamaguchi et al. [2006] |
6 |
|
1 |
c.3G>A |
p.Met1Ile |
Bst4CI, HpyCH4III, SfaNI |
|
|
Female |
Climent and Rubio [2002b] |
7 |
|
10,11 |
c.28_31delAACA |
Frameshift |
|
|
|
Female |
Yamaguchi et al. [2006] |
8 |
|
10 |
c.29dupA |
Frameshift |
|
|
|
Female |
Yamaguchi et al. [2006] |
9 |
|
14 |
c.40delT |
Frameshift |
|
|
Leader sequence |
Neonatal |
Hwu et al. [2003] |
10 |
|
18 |
c.53delA |
Frameshift |
AvaII |
|
|
Neonatal |
Tuchman et al. [2002] |
11 |
|
23 |
c.67C>T |
p.Arg23X |
AsuII, TaqI |
|
Leader sequence, CpG dinucleotide |
Neonatal |
Grompe et al. [1991] |
12 |
|
26 |
c.77G>A |
p.Arg26Gln |
|
(0%) |
Leader sequence, CpG dinucleotide,
possible donor splice site error |
Neonatal |
Grompe et al. [1989] |
13 |
|
26 |
c.77G>C |
p.Arg26Pro |
|
|
Leader sequence, CpG dinucleotide,
possible donor splice site error |
Neonatal |
Yamaguchi et al. [2006] |
14 |
Intron 1 |
|
c.77+1G>T |
|
MseI |
|
Donor splice site error |
Female |
Tuchman et al. [1997] |
15 |
|
|
c.77+1G>A |
|
|
|
Donor splice site error |
Female |
Yamaguchi et al. [2006] |
16 |
|
|
c.77+2dupT |
|
MseI |
|
Donor splice site error |
Neonatal |
Yamaguchi et al. [2006] |
17 |
|
|
c.77+3_6delAAGT |
|
HpHI |
|
Donor splice site error |
Female |
Tuchman et al. [2002] |
18 |
|
|
c.77+4A>C |
|
RsaI |
(0%) |
Donor splice site error |
Neonatal |
Hoshide et al. [1996] |
19 |
|
|
c.77+5G>A |
|
|
|
Donor splice site error |
Neonatal |
Tuchman et al. [1997] |
20 |
|
|
c.78-3C>G |
Frameshift (due to
77_78>insAG) |
MnlI |
(<5%) |
Acceptor splice site error, termination
of translation |
Female |
Bisanzi et al. [2002] |
21 |
|
|
c.78-1G>C |
|
|
|
Acceptor splice site error |
Neonatal |
Yamaguchi et al. [2006] |
22 |
Exon 2 |
32 |
c.94C>T |
p.Gln32X |
|
|
|
Female |
Oppliger Leibundgut et al. [1997] |
23 |
|
36 |
c.106C>T |
p.Gln36X |
CviRI, Fnu4HI, HpyCH4V |
|
|
Female |
Genet et al. [2000] |
24 |
|
39 |
c.115G>T |
p.Gly39Cys |
HaeIII, Sau96I |
|
|
Late |
Calvas et al. [1998] |
25 |
|
40 |
c.118C>T |
p.Arg40Cys |
HaeIII |
|
CpG dinucleotide |
Late |
Oppliger Leibundgut et al. [1995] |
26 |
|
40 |
c.119G>A |
p.Arg40His |
Mae III, Tsp45I |
(6%) |
CpG dinucleotide, expression studies
show normal kinetics and thermal stability, protein
degradation in cytosol |
Late |
Tuchman et al. [1994b] |
27 |
|
41 |
c.122A>G |
p.Asp41Gly |
|
|
|
Female |
Yamaguchi et al. [2006] |
28 |
|
43 |
c.127C>T |
p.Leu43Phe |
|
|
|
Female |
Oppliger Leibundgut et al. [1997] |
29 |
|
44 |
c.131C>T |
p.Thr44Ile |
|
|
|
Female |
Yoo et al. [1996] |
30 |
|
45 |
c.133C>G |
p.Leu45Val |
HpyCH4III, TspRI |
|
|
Female |
Tuchman et al. [1998] |
31 |
|
45 |
c.134T>C |
p.Leu45Pro |
|
|
|
Neonatal |
Grompe et al. [1989] |
32 |
|
45 |
c.135dupA |
Frameshift |
|
|
|
Female |
Yamaguchi et al. [2006] |
33 |
|
45-47 |
c.135delA |
Frameshift |
|
(0%) |
|
Neonatal |
Calvas et al. [1998] |
34 |
|
47 |
c.140_141insG |
Frameshift |
AluI, HindIII |
|
|
Neonatal |
Shimadzu et al. [1998] |
35 |
|
47 |
c.140A>T |
p.Asn47Ile |
|
|
|
Neonatal |
Tuchman et al. [1997] |
36 |
|
47 |
c.140A>C |
p.Asn47Thr |
|
|
|
Female |
Yamaguchi et al. [2006] |
37 |
|
48 |
c.143T>C |
p.Phe48Ser |
|
|
|
Female |
Genet et al. [2000] |
38 |
|
49 |
c.145A>C |
p.Thr49Pro |
|
|
|
Female |
Yamaguchi et al. [2006] |
39 |
|
50 |
c.148G>A |
p.Gly50Arg |
HpaII, MspI |
|
|
Late |
Tuchman et al. [1997] |
40 |
|
50 |
c.148G>T |
p.Gly50X |
DdeI, HpaII |
|
|
Female |
Feldmann et al. [1992] |
41 |
|
52 |
c.154G>A |
p.Glu52Lys |
MboII |
|
|
Neonatal |
McCullough et al. [2000] |
42 |
|
52 |
c.154G>T |
p.Glu52X |
MboII |
|
|
Female |
McCullough et al. [2000] |
43 |
|
52 |
c.155A>G |
p.Glu52Gly |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
44 |
|
52 |
c.156A>T |
p.Glu52Asp |
Tsp509I |
(4%) |
|
Late |
McCullough et al. [2000] |
45 |
|
53 |
c.158T>C |
p.Ile53Thr |
MseI, TspEI, Tsp509I |
|
|
Late |
Yamaguchi et al. [2006] |
46 |
|
53 |
c.158T>G |
p.Ile53Ser |
MseI, TspEI, Tsp509I |
|
|
Neonatal |
Yamaguchi et al. [2006] |
47 |
|
55 |
c.163T>G |
p.Tyr55Asp |
|
(28%) |
|
Late |
Nishiyori et al. [1998] |
48 |
|
56 |
c.167T>C |
p.Met56Thr |
|
[54%] |
|
Late |
Tuchman et al. [1997] |
49 |
|
57 |
c.170T>A |
p.Leu57Gln |
BsrDI, CviRI, HpyCH4V |
|
|
Neonatal |
Yamaguchi et al. [2006] |
50 |
|
58 |
c.174G>A |
p.Trp58X |
CviJI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
51 |
|
60 |
c.179C>T |
p.Ser60Leu |
|
|
|
Female |
Tuchman et al. [1997] |
52 |
|
63 |
c.188T>C |
p.Leu63Pro |
BglII |
|
|
Female |
Oppliger Leibundgut et al. [1997] |
53 |
|
67 |
c.200T>G |
p.Ile67Arg |
|
|
|
Female |
Yamaguchi et al. [2006] |
54 |
|
69 |
c.205C>T |
p.Gln69X |
|
|
|
Female |
Climent et al. [1999] |
55 |
Intron 2 |
|
c.216+1G>A |
|
|
|
Donor splice site error |
Late |
Oppliger Leibundgut et al. [1996a] |
56 |
|
|
c.216+1G>T |
|
MnlI |
(10%) |
Donor splice site error |
Late |
Azevedo et al. [2002] |
57 |
|
|
c.217-1G>A |
|
PsiI, SspI |
|
Acceptor splice site error |
Neonatal |
Tuchman et al. [1992] |
58 |
Exon 3 |
|
delExon 3 |
|
|
|
|
Neonatal |
Tuchman et al. [1998] |
59 |
|
76 |
c.227T>C |
p.Leu76Ser |
BsrDI |
|
|
Neonatal |
Genet et al. [2000] |
60 |
|
77 |
c.231G>T |
p.Leu77Phe |
CviRI, MwoI |
[35%] |
|
Late |
McCullough et al. [2000] |
61 |
|
78 |
c.232C>T |
p.Gln78X |
Mwol |
|
|
Neonatal |
Yamaguchi et al. [2006] |
62 |
|
79 |
c.236G>A |
p.Gly79Glu |
|
(0%) |
|
Neonatal |
Tuchman et al. [1992] |
63 |
|
80 |
c.238A>G |
p.Lys80Glu |
HinfI, PleI |
|
|
Female |
Schultz and Salo [2000] |
64 |
|
80 |
c.240G>T |
p.Lys80Asn |
EcoRI, Tsp509I |
|
|
Late |
Galloway et al. [2000] |
65 |
|
81-82 |
c.243_245delCTT |
p.Leu244del |
Bsu36I, DdeI |
|
|
Female |
Tuchman and Plante [1995] |
66 |
|
82 |
c.245T>G |
p.Leu82X |
BseMII, MnlI |
|
|
Female |
Tuchman et al. [2002] |
67 |
|
83 |
c.247G>C |
p.Gly83Arg |
Bsu36I |
|
|
Neonatal |
Tuchman et al. [1997] |
68 |
|
83 |
c.248G>A |
p.Gly83Asp |
CvnI |
|
|
Neonatal |
Bartholomew and McClellan [1998] |
69 |
|
87 |
c.259G>A |
p.Glu87Lys |
MseI |
|
|
Late |
Feldmann et al. [1992] |
70 |
|
88 |
c.264A>T |
p.Lys88Asn |
|
(3%) |
|
Late |
Reish et al. [1993] |
71 |
|
90 |
c.268A>G |
p.Ser90Gly |
|
(<20%) |
|
Female |
Takanashi et al. [2002] |
72 |
|
90 |
c.269G>A |
p.Ser90Asn |
RsaI, ScaI |
|
|
Neonatal |
McCullough et al. [2000] |
73 |
|
90 |
c.270T>G |
p.Ser90Arg |
RsaI, ScaI |
|
|
Female |
Tuchman et al. [1998] |
74 |
|
91 |
c.271delA |
Frameshift |
RsaI, ScaI, TatI |
|
|
Female |
Genet et al. [2000] |
75 |
|
92 |
c.274C>G |
p.Arg92Gly |
TaqI |
|
CpG dinucleotide |
Female |
Yamaguchi et al. [2006] |
76 |
|
92 |
c.274C>T |
p.Arg92X |
TaqI |
(0%) |
CpG dinucleotide |
Neonatal |
Grompe et al. [1991] |
77 |
|
92 |
c.275G>T |
p.Arg92Leu |
TaqI |
|
CpG dinucleotide |
Neonatal |
Yamaguchi et al. [2006] |
78 |
|
92 |
c.275G>A |
p.Arg92Gln |
TaqI |
(0%) |
CpG dinucleotide |
Neonatal |
Grompe et al. [1991] |
79 |
|
92 |
c.275G>C |
p.Arg92Pro |
MmeI, TaqI |
|
CpG dinucleotide |
Neonatal |
Yamaguchi et al. [2006] |
80 |
|
93 |
c.277A>G |
p.Thr93Ala |
AvaI, XhoI |
|
Carbamyl phosphate binding site |
Late |
Tuchman and Plante [1995] |
81 |
|
94 |
c.281G>C |
p.Arg94Thr |
|
|
Carbamyl phosphate binding site |
Late |
Tuchman et al. [1992] |
82 |
|
95 |
c.284T>C |
p.Leu95Ser |
DpnI, MboI |
|
|
Late |
McCullough et al. [2000] |
83 |
|
98 |
c.292G>A |
p.Glu98Lys |
SfeI |
(33%) |
|
Female |
Bisanzi et al. [2002] |
84 |
Intron 3 |
|
c.298+1G>A |
|
|
|
Donor splice site error |
Neonatal |
Garcia-Perez et al. [1995] |
85 |
|
|
c.298+1G>T |
|
|
|
Donor splice site error |
Late |
Yamaguchi et al. [2006] |
86 |
|
|
c.298+1_5delGTAAG |
|
HpyCH4III |
|
Donor splice site error |
Female |
Tuchman et al. [1997] |
87 |
|
|
c.298+5G>C |
|
Hpy8I, MaeIII |
|
Donor splice site error |
Female |
Yamaguchi et al. [2006] |
88 |
Exon 4 |
|
delExon 4-10 |
|
|
|
|
Neonatal |
Tuchman et al. [1997] |
89 |
|
100 |
c.299G>A |
p.Gly100Asp |
AccI, EspI |
|
|
Female |
Oppliger Leibundgut et al. [1997] |
90 |
|
102 |
c.305C>A |
p.Ala102Glu |
EspI |
|
|
Neonatal |
Tuchman et al. [1997] |
91 |
|
105 |
c.314G>T |
p.Gly105Val |
|
|
|
Female |
Yamaguchi et al. [2006] |
92 |
|
106 |
c.316G>A |
p.Gly106Arg |
MboII, MnlI |
|
|
Female |
McCullough et al. [2000] |
93 |
|
106 |
c.317G>A |
p.Gly106Glu |
|
(<20%) |
|
Female |
Takanashi et al. [2002] |
94 |
|
106 |
c.317G>T |
p.Gly106Val |
|
|
|
Female |
Yamaguchi et al. [2006] |
95 |
|
109-110 |
c.327delT |
Frameshift |
|
|
|
Neonatal |
Calvas et al. [1998] |
96 |
|
117 |
c.350A>G |
p.His117Arg |
MslI, TspDTI |
(18%) |
|
Late |
Matsuura and Matsuda [1998] |
97 |
|
117 |
c.350A>T |
p.His117Leu |
MslI, TspDTI |
|
|
Late |
Tuchman et al. [1994a] |
98 |
|
120 |
c.358_359delGT |
Frameshift |
HphI |
|
Termination of translation |
Female |
Yamaguchi et al. [2006] |
99 |
|
122 |
c.364_365insTT |
Frameshift |
MseI |
|
|
Female |
Yamaguchi et al. [2006] |
100 |
|
125 |
c.374C>T |
p.Thr125Met |
MboI, NlaII |
(<1%) |
|
Neonatal |
Gilbert-Dussardier et al. [1996] |
101 |
|
125 |
c.375delG |
Frameshift |
|
|
|
Female |
Yamaguchi et al. [2006] |
102 |
|
126 |
c.377A>G |
p.Asp126Gly |
BseSI, SduI |
|
|
Neonatal |
Matsuura et al. [1994] |
103 |
|
129 |
c.386G>C |
p.Arg129Pro |
MspI, NlaIV |
|
CpG dinucleotide, possible donor splice
site error |
Female |
Yamaguchi et al. [2006] |
104 |
|
129 |
c.386G>A |
p.Arg129His |
MspI |
(1.3–3.5%) |
CpG dinucleotide, donor splice site
error, identical to mutation in spfASH mouse |
Late |
Tuchman et al. [1994b] |
105 |
|
129 |
c.386G>T |
p.Arg129Leu |
MspI |
|
CpG dinucleotide, donor splice site
error |
Late |
Strautnieks and Malcolm [1993] |
106 |
Intron 4 |
|
c.386+1G>T |
|
BssKI, CauII, HpaII, ScrFI |
|
Donor splice site error, somatic
mosaicism |
Late |
Yamaguchi et al. [2006] |
107 |
|
|
c.386+1G>A |
|
BssKI, CauII, HpaII, ScrFI |
|
Donor splice site error |
Neonatal |
Yamaguchi et al. [2006] |
108 |
|
|
c.386+2T>C |
|
|
|
Donor splice site error |
Neonatal |
Yamaguchi et al. [2006] |
109 |
|
|
c.387-2A>T |
|
TspRI |
|
Acceptor splice site error, skipping
first 12 bp of exon 5 |
Neonatal |
Carstens et al. [1991] |
110 |
|
|
c.387-2A>C |
|
TspRI |
|
Acceptor splice site error |
Neonatal |
McCullough et al. [2000] |
111 |
|
|
c.387-2A>G |
|
BtgI, DsaI, TspRI |
|
Acceptor splice site error |
Neonatal |
McCullough et al. [2000] |
112 |
Exon 5 |
|
delExon 5-8 |
|
|
|
Somatic mosaicism |
Late |
Maddalena et al. [1988a] |
113 |
|
130 - 131 |
c.390_391insTTA |
p.Val130_Leu131ins Leu |
|
|
|
Female |
Tuchman et al. [2002] |
114 |
|
131 |
c.392T>C |
p.Leu131Ser |
|
|
|
Late |
Yamaguchi et al. [2006] |
115 |
|
132 |
c.394T>C |
p.Ser132Pro |
|
|
|
Late |
Bisanzi et al. [2002] |
116 |
|
132 |
c.395C>T |
p.Ser132Phe |
BfaI |
[78.6%] |
|
Late |
Gyato et al. [2004] |
117 |
|
135 |
c.403delG |
Frameshift |
NspI, SphI |
|
|
Neonatal |
Tuchman et al. [1992] |
118 |
|
135 |
c.404C>A |
p.Ala135Glu |
MboII |
|
|
Late |
Yamaguchi et al. [2006] |
119 |
|
136 |
c.407A>T |
p.Asp136Val |
SfaNI |
|
|
Late |
Yamaguchi et al. [2006] |
120 |
|
137 |
c.409G>A |
p.Ala137Thr |
SfaNI |
|
|
Female |
Yamaguchi et al. [2006] |
121 |
|
139 |
c.416T>C |
p.Leu139Ser |
|
|
|
Female |
Tuchman et al. [1997] |
122 |
|
140 |
c.418G>C |
p.Ala140Pro |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
123 |
|
141 |
c.421C>G |
p.Arg141Gly |
TaqI, XhoI |
|
CpG dinucleotide |
Female |
Yamaguchi et al. [2006] |
124 |
|
141 |
c.421C>T |
p.Arg141X |
TaqI, XhoI |
|
CpG dinucleotide |
Neonatal |
Hata et al. [1989] |
125 |
|
141 |
c.422G>A |
p.Arg141Gln |
TaqI, XhoI |
(0%) |
CpG dinucleotide |
Neonatal |
Maddalena et al. [1988b] |
126 |
|
141 |
c.422G>C |
p.Arg141Pro |
TaqI, XhoI |
|
|
Female |
Tuchman et al. [1997] |
127 |
|
142 |
c.425T>A |
p.Val142Glu |
|
|
|
Late |
Tuchman et al. [2002] |
128 |
|
144 |
c.430A>T |
p.Lys144X |
MseI |
|
|
Female |
Tuchman and Plante [1995] |
129 |
|
146 |
c.437C>G |
p.Ser146X |
Hpy188I |
|
|
Neonatal |
Genet et al. [2000] |
130 |
|
148 |
c.443T>C |
p.Leu148Ser |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
131 |
|
148 |
c.443T>G |
p.Leu148Trp |
BsmFI |
|
|
Female |
McCullough et al. [2000] |
132 |
|
148 |
c.444G>C |
p.Leu148Phe |
TaqI |
|
|
Female |
Komaki et.al. [1997] |
133 |
|
148 |
c.444G>T |
p.Leu148Phe |
|
(17%) |
|
Female |
Matsuura and Matsuda [1998] |
134 |
|
150-151 |
c.449delC |
Frameshift |
ApyI, EcoRII |
|
|
Female |
Tuchman et al. [2002] |
135 |
|
151 |
c.452T>G |
p.Leu151Arg |
|
|
|
Female |
Yamaguchi et al. [2006] |
136 |
|
152 |
c.455C>T |
p.Ala152Val |
CviJI, MseI |
(3.7%) |
Expression studies show reduced OTC
protein |
Late |
Kogo et al. [1998] |
137 |
|
154 |
c.460G>T |
p.Glu154X |
|
(0%) |
|
Neonatal |
Grompe et al. [1989] |
138 |
|
155 |
c.463G>T |
p.Ala155Ser |
HinfI, TfiI |
|
|
Female |
Tuchman et al. [2002] |
139 |
|
155 |
c.463G>C |
p.Ala155Pro |
MwoI, SfaNI |
|
|
Female |
Yamaguchi et al. [2006] |
140 |
|
155 |
c.464C>A |
p.Ala155Glu |
BseGI, FokI, HinfI, MboII, MwoI, SfaNI,
TfiI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
141 |
|
159 |
c.476T>C |
p.Ile159Thr |
Tsp509I |
(1.5%) |
|
Late |
Garcia-Perez et al. [1995] |
142 |
|
160 |
c.479T>G |
p.Ile160Ser |
BsrDI |
|
|
Female |
Climent and Rubio [2002b] |
143 |
|
160 |
c.479T>A |
p.Ile160Asn |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
144 |
|
160 |
c.479T>C |
p.Ile160Thr |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
145 |
|
161 |
c.481A>G |
p.Asn161Asp |
TaqI |
|
|
Neonatal |
Genet et al. [2000] |
146 |
|
161 |
c.482A>G |
p.Asn161Ser |
TspRI |
|
|
Neonatal |
Tuchman and Plante [1995] |
147 |
|
161 |
c.483T>AorG |
p.Asn161Lys |
|
(<10%) |
|
Female |
Takanashi et al. [2002] |
148 |
|
162 |
c.484G>C |
p.Gly162Arg |
|
|
|
Female |
Yamaguchi et al. [2006] |
149 |
|
162 |
c.484G>A |
p.Gly162Arg |
|
|
|
Neonatal |
Feldmann et al. [1992] |
150 |
|
162 |
c.485G>A |
p.Gly162Glu |
AluI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
151 |
|
164 |
c.490T>C |
p.Ser164Pro |
Fnu4HI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
152 |
|
164 |
c.491C>G |
p.Ser164X |
Hpy188I |
|
|
Female |
Matsuda and Tanase [1997] |
153 |
|
165 |
c.493G>T |
p.Asp165Tyr |
Hpy188I |
|
|
Late |
Genet et al. [2000] |
154 |
|
167 |
c.501C>A |
p.Tyr167X |
MaeIII, RsaI |
(0%) |
|
Neonatal |
Garcia-Perez et al. [1995] |
155 |
|
167 |
c.501C>G |
p.Tyr167X |
RsaI, SfaNI |
|
|
Neonatal |
Shimadzu et al. [1998] |
156 |
|
168 |
c.503A>C |
p.His168Pro |
BccI, BseGI, BstF51, FokI |
|
|
Late |
Yamaguchi et al. [2006] |
157 |
|
168 |
c.503A>G |
p.His168Arg |
BccI, BseGI, BstF51, FokI |
|
Expression studies show enzyme cannot
form a functional complex. |
Female |
Vella et al. [1996] |
158 |
|
168 |
c.504T>A |
p.His168Gln |
BccI, BseGI, BstF5I, FokI |
[69%] |
|
Late |
Tuchman et al. [1997] |
159 |
|
169 |
c.505C>G |
p.Pro169Ala |
FokI, NlaIII |
|
|
Female |
Tuchman et al. [2002] |
160 |
|
169 |
c.506C>T |
p.Pro169Leu |
BseGI, BstF51, FokI |
|
|
Neonatal |
Genet et al. [2000] |
161 |
|
172 |
c.514A>T |
p.Ile172Phe |
DpnI, XhoII |
|
|
Female |
Climent et al. [1999] |
162 |
|
172 |
c.516C>G |
p.Ile172Met |
BspNI, DpnI, EcoRII |
|
|
Neonatal |
Matsuura et al. [1994] |
163 |
|
174 |
c.520G>C |
p.Ala174Pro |
EcoRII, BspNI |
|
|
Female |
Tsai et al. [1993] |
164 |
|
175 |
c.524A>G |
p.Asp175Gly |
BstEII, MaeIII |
|
|
Late |
Genet et al. [2000] |
165 |
|
175 |
c.524A>T |
p.Asp175Val |
|
|
|
Female |
Tuchman et al. [1997] |
166 |
|
176 |
c.526T>C |
p.Tyr176His |
BclI, MboI |
|
|
Neonatal |
Tuchman et al. [2002] |
167 |
|
176 |
c.527A>G |
p.Tyr176Cys |
|
(19%) |
|
Late |
Oppliger Leibundgut et al. [1996b] |
168 |
|
178 |
c.533C>T |
p.Thr178Met |
NlaIII |
|
|
Neonatal |
Oppliger Leibundgut et al. [1995] |
169 |
|
177-178 |
c.530_533dupTCAC |
Frameshift |
BsaXI |
|
|
Neonatal |
Gilbert-Dussadier et al. [1996] |
170 |
|
178-179 |
c.532_537delACGCTC |
p.Thr178_Leu179del |
BspNI, EcoRII |
|
|
Neonatal |
Shimadzu et al. [1998] |
171 |
|
179 |
c.536T>C |
p.Leu179Pro |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
172 |
|
180 |
c.[539A>C (+) 540G>C] |
p.Gln180Pro |
BseBI, BssKI, Eco57MI, EcoRII, GsuI,
ScrFI |
(<10%) |
|
Neonatal |
Hübler et al. [2001] |
173 |
|
180 |
c.540G>C |
p.Gln180His |
BseBI, BssKI, Eco57MI, EcoRII, GsuI,
ScrFI |
(7.1%) [43%] |
Donor splice site error |
Neonatal |
Tuchman et al. [1997] |
174 |
Intron 5 |
|
c.540+1G>C |
|
AluI, BspNI, EcoRII |
|
Donor splice site error |
Neonatal |
Oppliger Leibundgut et al. [1996a] |
175 |
|
|
c.540+2T>C |
|
CviJI |
(0%) |
Donor splice site error |
Neonatal |
Matsuura et al. [1995] |
176 |
|
|
c.540+2T>A |
|
Fokl |
|
Donor splice site error |
Neonatal |
Yamaguchi et al. [2006] |
177 |
|
|
c.541-2A>G |
|
|
|
Acceptor splice site error |
Neonatal |
Genet et al. [2000] |
178 |
Exon 6 |
181 |
c.542A>G |
p.Glu181Gly |
BsmFI |
|
|
Neonatal |
Tuchman et al. [1998] |
179 |
|
182 |
c.545A>T |
p.His182Leu |
|
|
|
Neonatal |
Tuchman et al. [1994a] |
180 |
|
183 |
c.547T>G |
p.Tyr183Asp |
SfcI |
|
|
Female |
Oppliger Leibundgut et al. [1997] |
181 |
|
183 |
c.548A>G |
p.Tyr183Cys |
HpyCH4III, TspRI, Tsp4CI |
|
|
Neonatal |
Reish et al. [1993] |
182 |
|
188 |
c.562G>C |
p.Gly188Arg |
HpyCH4IV, TaiI |
(2%) |
|
Neonatal |
Gilbert-Dussadier et al. [1996] |
183 |
|
188 |
c.563G>T |
p.Gly188Val |
|
|
|
Female |
Climent et al. [1999] |
184 |
|
191 |
c.571C>T |
p.Leu191Phe |
DdeI, MnlI |
(5.7%) |
|
Late |
Climent and Rubio [2002b] |
185 |
|
191 |
c.572T>G |
p.Leu191Arg |
AciI, BbvI, BbvCI, Bpu10I, BseMII,
BspNI, DdeI, FauI, Fnu4HI, MnlI, TseI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
186 |
|
192 |
c.576C>G |
p.Ser192Arg |
Alu I, PvuII |
|
|
Neonatal |
Matsuura et al. [1993] |
187 |
|
193 |
c.577T>C |
p.Trp193Arg |
AluI, HpaII, NspBII, PvuII |
|
|
Female |
Yamaguchi et al. [2006] |
188 |
|
193 |
c.577T>G |
p.Trp193Gly |
AluI, CviJI, FauI, PvuII |
|
|
Female |
Yamaguchi et al. [2006] |
189 |
|
193 |
c.578G>A |
p.Trp193X |
AlwI, PvuII |
|
|
Neonatal |
Shimadzu et al. [1998] |
190 |
|
195 |
c.583G>A |
p.Gly195Arg |
|
(0%) |
CpG dinucleotide, expression studies
show no activity and reduced OTC protein |
Neonatal |
Tuchman et al. [1994b] |
191 |
|
195 |
c.583delG |
Frameshift |
Hpy178III |
|
|
Female |
Climent and Rubio [2002b] |
192 |
|
196 |
c.586G>A |
p.Asp196Asn |
BccI, BseGI, BstF51, FokI,
Hpy178III |
|
|
Late |
Yamaguchi et al. [2006] |
193 |
|
196 |
c.586G>T |
p.Asp196Tyr |
BccI, BseGI, BstF51, FokI, |
|
|
Neonatal |
Tuchman et al. [1998] |
194 |
|
196 |
c.587A>T |
p.Asp196Val |
BccI, BseGI, BstF5I, FokI |
(7%) |
Increased Km for ornithine |
Neonatal |
Matsuura et al. [1993] |
195 |
|
197 |
c.589G>A |
p.Gly197Arg |
BseG, BstF5I, FokI |
|
|
Female |
Climent et al. [1999] |
196 |
|
197 |
c.590G>A |
p.Gly197Glu |
|
|
|
Female |
Tuchman et al. [1998] |
197 |
|
198 |
c.593A>T |
p.Asn198Ile |
BinI, BsaBI, BstKTI, DpnI, MboI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
198 |
|
198 |
c.594C>A |
p.Asn198Lys |
|
|
|
Female |
Popowska et al. [1999] |
199 |
|
199 |
c.595A>G |
p.Asn199Asp |
EcoRV |
|
|
Female |
Yamaguchi et al. [2006] |
200 |
|
199 |
c.596A>G |
p.Asn199Ser |
BciVI, HpyCH4III |
|
|
Neonatal |
Tuchman et al. [2002] |
201 |
|
199-200 |
c.(597_598)delTA |
Frameshift |
|
|
|
Neonatal |
Tuchman et al. [1994b] |
202 |
|
201 |
c.602T>C |
p.Leu201Pro |
BsgI, FauI |
|
|
Neonatal |
Shimadzu et al. [1998] |
203 |
|
202 |
c.604C>T |
p.His202Tyr |
RsaI, TatI, |
[49%] |
|
Late |
Tuchman et al. [1997] |
204 |
|
202 |
c.605A>C |
p.His202Pro |
BsgI, MnlI |
|
|
Female |
Staudt et al. [1998] |
205 |
|
203 |
c.608C>G |
p.Ser203Cys |
BtsI, TspRI |
|
|
Female |
Tuchman et al. [1994a] |
206 |
|
205 |
c.613A>G |
p.Met205Val |
BspHI, NlaIII |
|
|
Neonatal |
Genet et al. [2000] |
207 |
|
206 |
c.617T>G |
p.Met206Arg |
MnlI, MslI |
|
|
Neonatal |
Tuchman et al. [1997] |
208 |
|
206 |
c.618G>C |
p.Met206Ile |
BclI, BstKTI, DpnI, MboI, MslI |
|
|
Female |
Climent and Rubio [2002b] |
209 |
|
207 |
c.620G>A |
p.Ser207Asn |
CfoI, HhaI, Hin6I, TspDTI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
210 |
|
207 |
c.621C>A |
p.Ser207Arg |
CfoI, HhaI, Hin6I, TspDTI |
|
|
Neonatal |
Shimadzu et al. [1998] |
211 |
|
208 |
c.622G>A |
p.Ala208Thr |
CfoI, HhaI, Hin6I, ItaI |
(4%) |
CpG dinucleotide |
Late |
van Diggelen et al. [1996] |
212 |
|
209 |
c.626C>T |
p.Ala209Val |
BtsI, TseI |
(1%) [1.4%] |
|
Neonatal |
Garcia-Perez et al. [1995] |
213 |
|
210 |
c.628A>C |
p.Lys210Gln |
ApoI, CfoI, HhaI, Hin6I |
(0%) |
|
Female |
Valik et al. [2004] |
214 |
|
213 |
c.637T>A |
p.Met213Lys |
BsmI, HpyCH4V |
|
|
Female |
Oppliger Leibundgut et al. [1997] |
215 |
|
214 |
c.640C>T |
p.His214Tyr |
BsmI, RsaI |
|
|
Neonatal |
Yoo et al. [1996] |
216 |
|
215 |
c.643C>T |
p.Leu215Phe |
|
(17%) |
|
Female |
Ueta et al. [2001] |
217 |
|
215-216 |
c.645_646insT |
Frameshift |
Eco57I |
|
|
Neonatal |
Tuchman et al. [1994a] |
218 |
|
216 |
c.646C>G |
p.Gln216Glu |
MnlI, SmlI |
|
|
Neonatal |
Grompe et al. [1989] |
219 |
|
217 |
c.650C>A |
p.Ala217Glu |
BbvI, Fnu4HI, Hpy178III, TseI |
|
|
Female |
Yamaguchi et al. [2006] |
220 |
|
220 |
c.658C>G |
p.Pro220Ala |
BslI, MwoI |
(35%) |
|
Late |
Oppliger Leibundgut et al. [1996b] |
221 |
|
220 |
c.659C>T |
p.Pro220Leu |
BslI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
222 |
|
221 |
c.663G>C |
p.Lys221Asn |
MaeII, TaiI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
223 |
|
221 |
c.663G>A |
p.Lys221Lys |
|
(8%) |
Donor splice site error |
Late |
Shimadzu et al. [1998] |
224 |
Intron 6 |
|
c.663+1G>A |
|
|
|
Donor splice site error |
Female |
Tuchman et al. [1997] |
225 |
|
|
c.663+1G>T |
|
|
|
Donor splice site error |
Female |
Oppliger Leibundgut et al. [1996a] |
226 |
|
|
c.663+2T>C |
|
|
|
Donor splice site error |
Neonatal |
Tuchman et al. [1997] |
227 |
|
|
c.663+2dupT |
|
BslI |
|
Donor splice site error |
Female |
Tuchman and Plante [1995] |
228 |
|
|
c.664-1G>A |
|
EcoNI, MseI |
|
Acceptor splice site error |
Neonatal |
Tuchman et al. [2002] |
229 |
|
|
c.664-1delG |
Frameshift |
|
|
|
Female |
Tuchman et al. [1997] |
230 |
Exon 7 |
|
delExon 7-8 |
|
|
|
|
Neonatal |
Suess et al. [1992] |
231 |
|
|
delExon 7-9 |
|
|
|
Somatic mosaicism |
Late |
Legius et al. [1990] |
232 |
|
225 |
c.673C>A |
p.Pro225Thr |
CviJI, MspI |
[42%] |
|
Late |
Tuchman et al. [1994b] |
233 |
|
225 |
c.674C>G |
p.Pro225Arg |
FauI, MspI |
(0%) |
Undetectable protein in liver |
Neonatal |
Garcia-Perez et al. [1997] |
234 |
|
225 |
c.674C>T |
p.Pro225Leu |
AluI, MspI |
(0%) [0.45%] |
|
Neonatal |
Hentzen et al. [1991] |
235 |
|
233 |
c.698C>T |
p.Ala233Val |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
236 |
|
234 |
c.700G>T |
p.Glu234X |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
237 |
|
239 |
c.716A>T |
p.Glu239Val |
MnlI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
238 |
|
239 |
c.716A>G |
p.Glu239Gly |
BplI, MnlI |
|
|
Late |
Yamaguchi et al. [2006] |
239 |
|
239 |
c.717G>C |
p.Glu239Asp |
Hin4I, MaeII, TaiI |
|
|
Female |
Yamaguchi et al. [2006] |
240 |
|
239 |
c.717G>A |
p.Glu239Glu |
MnlI |
|
Donor splice site error |
Female |
Tuchman et al. [1997] |
241 |
Intron 7 |
|
c.717+1G>T |
|
MnlI |
|
Donor splice site error |
Female |
Tuchman et al. [2002] |
242 |
|
|
c.717+1G>A |
|
MnlI |
|
Donor splice site error |
Neonatal |
Genet et al. [2000] |
243 |
|
|
c.717+2T>C |
|
BglI, SphI |
|
Donor splice site error, skipping exon
7 |
Neonatal |
Carstens et al. [1991] |
244 |
|
|
c.717+3A>G |
|
BsiHKAI, Bsp1286I |
|
Donor splice site error, skipping exon
7 |
Neonatal |
Carstens et al. [1991] |
245 |
|
|
c.717+7_22delTCTTTACATGTAAAGC |
|
NlaIII, NspI |
(0-1.5%) |
Donor splice site error |
Neonatal |
Calvas et al. [1998] |
246 |
|
|
c.718-2A>G |
|
BfaI, MaeI |
|
Donor splice site error |
Female |
Popowska et al. [1999] |
247 |
Exon 8 |
|
c.718-4_729delCTAGAATGGTACCAAG |
|
Acc65I, BfaI, Csp6I, HgiCI, KpnI, MaeI,
NlaIV, RsaI |
|
Eliminates an acceptor splice
site |
Female |
Yamaguchi et al. [2006] |
248 |
|
242 |
c.725C>T |
p.Thr242Ile |
BanI, KpnI |
|
|
Late |
Tuchman et al. [1997] |
249 |
|
244 |
c.731T>A |
p.Leu244Gln |
AluI, CviJI |
(8%) |
|
Late |
Calvas et al. [1998] |
250 |
|
247 |
c.740C>A |
p.Thr247Lys |
|
(0%) |
|
Neonatal |
Tuchman and Plante [1995] |
251 |
|
244-247 |
c.731_739delTGTTGCTGA |
|
AluI |
|
|
Female |
Calvas et al. [1998] |
252 |
|
253 |
c.757G>A |
p.Ala253Thr |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
253 |
|
253 |
c.757G>C |
p.Ala253Pro |
NlaIV |
|
|
Neonatal |
Yamaguchi et al. [2006] |
254 |
|
253 |
c.759delA |
Frameshift |
BbvI, BsePI, Cac8I, FnuDII, Fnu4HI,
TseI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
255 |
|
255 |
c.764A>C |
p.His255Pro |
BpmI, NlaIII |
|
|
Female |
Tuchman et al. [1998] |
256 |
|
260 |
c.779T>C |
p.Leu260Ser |
|
|
|
Female |
Yamaguchi et al. [2006] |
257 |
|
262 |
c.785C>A |
p.Thr262Lys |
PacI |
(26%) |
Somatic mosaicism |
Late |
Giorgi et al. [2000] |
258 |
|
262 |
c.785C>T |
p.Thr262Ile |
|
|
History not known |
Late |
Yamaguchi et al. [2006] |
259 |
|
263 |
c.787G>A |
p.Asp263Asn |
|
|
|
Female |
Tuchman et al. [1997] |
260 |
|
263 |
c.788A>G |
p.Asp263Gly |
|
|
|
Female |
Tuchman et al. [1998] |
261 |
|
264 |
c.790A>G |
p.Thr264Ala |
HgaI |
(22%) |
|
Late |
Matsuura et al. [1993] |
262 |
|
264 |
c.791C>A |
p.Thr264Asn |
MfeI, TspEI |
|
|
Not reported |
Hwu et al. [2003] |
263 |
|
264 |
c.791C>T |
p.Thr264Ile |
|
|
|
Late |
Shimadzu et al. [1998] |
264 |
|
265 |
c.793T>C |
p.Trp265Arg |
Hpy1881 |
|
|
Late |
Yamaguchi et al. [2006] |
265 |
|
265 |
c.794G>T |
p.Trp265Leu |
|
(56%) |
pH variant |
Late |
Giorgi et al. [2000] |
266 |
|
265 |
c.795G>A |
p.Trp265X |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
267 |
|
267 |
c.799A>C |
p.Ser267Arg |
BciVI |
|
|
Female |
Shimadzu et al. [1998] |
268 |
|
268 |
c.803T>C |
p.Met268Thr |
NlaIII |
(6.7%) |
|
Late |
Matsuura et al. [1993] |
269 |
|
269 |
c.806G>A |
p.Gly269Glu |
BsmFI |
(2%) |
|
Neonatal |
Zimmer et al. [1995] |
270 |
|
270 |
c.808C>T |
p.Gln270X |
BsmFI |
|
|
Neonatal |
McCullough et al. [2000] |
271 |
|
270 |
c.809A>C |
p.Gln270Pro |
AsuI, AvaII, NlaIV |
|
|
Female |
Yamaguchi et al. [2006] |
272 |
|
271-272 |
c.810_811delAGinsC |
Frameshift |
|
|
|
Neonatal |
Khoo et al. [1999] |
273 |
|
272-273 |
c.817_819delGAG |
p.Glu273del |
BseRI, MnlI |
(5%) |
|
Late |
Segues et al. [1996] |
274 |
|
273 |
c.818delA |
Frameshift |
BseRI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
275 |
|
277 |
c.829C>T |
p.Arg277Trp |
AciI, Fnu4HI, ItaI |
(5%) [59%] |
CpG dinucleotide, increased Km for
ornithine |
Late |
Finkelstein et al. [1990a] |
276 |
|
277 |
c.830G>A |
p.Arg277Gln |
AciI, AluI, NlaIV |
(7%) |
CpG dinucleotide, increased Km for
ornithine |
Late |
Tuchman et al. [1994b] |
277 |
|
277 |
c.830G>T |
p.Arg277Leu |
AciI, TseI |
|
|
Late |
Tuchman et al. [2002] |
278 |
|
279 |
c.835C>T |
p.Gln279X |
ApyI, MvaI |
|
|
Neonatal |
Tuchman et al. [2002] |
279 |
|
289 |
c.867G>T |
p.Lys289Asn |
BsrGI, TatI |
(0%) |
Possible donor splice site error |
Neonatal |
Tuchman et al. [2002] |
280 |
Intron 8 |
|
c.867+1G>A |
|
Csp6I, MboII, RsaI |
|
Donor splice site error |
Neonatal |
Tuchman et al. [1998] |
281 |
|
|
c.867+1G>T |
|
Csp6I, MaeIII, RsaI |
|
Donor splice site error |
Neonatal |
Oppliger Leibundgut et al. [1996a] |
282 |
|
|
delExon 9 |
|
|
|
|
Neonatal |
Suess et al. [1992] |
283 |
Exon 9 |
292 |
c.875delA |
Frameshift |
DdeI, MwoI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
284 |
|
294 |
c.882delT |
Frameshift |
CfoI, HinP1I |
|
|
Neonatal |
Reish et al. [1993] |
285 |
|
297-298 |
c.889_892delGACT |
Frameshift |
BsrI, BsiYI, Hpy178III, Hpy188I, |
(0%) |
|
Neonatal |
Yamanouchi et al. [2002] |
286 |
|
298 |
c.892_893delTG |
Frameshift |
BslI, BsrI |
|
|
Female |
Schimanski et al. [1996] |
287 |
|
298 |
c.893G>C |
p.Trp298Ser |
BsiYI, BsrI, HinfI, MlyI, PleI,
TaqI |
(0%) |
|
Neonatal |
Ensenauer et al. [2005] |
288 |
|
301 |
c.903A>T |
p.Leu301Phe |
|
(3%) |
|
Late |
Climent and Rubio [2002b] |
289 |
|
302 |
c.904C>T |
p.His302Tyr |
BtsI, TspRI |
(0%) |
|
Neonatal |
Oppliger Leibundgut et al. [1996b] |
290 |
|
302 |
c.905A>G |
p.His302Arg |
BbvI, BtsI, TseI, TspRI |
|
|
Neonatal |
Genet et al. [2000] |
291 |
|
302 |
c.905A>T |
p.His302Leu |
BtsI, TspRI |
|
|
Female |
Gilbert-Dussadier et al. [1996] |
292 |
|
302 |
c.906C>G |
p.His302Gln |
BtsI, HpyCH4III |
|
|
Late |
Tuchman et al. [1997] |
293 |
|
302 |
c.906delC |
Frameshift |
|
|
|
Female |
Yamaguchi et al. [2006] |
294 |
|
303 |
c.907T>C |
p.Cys303Arg |
AciI, BtsI, TspRI |
|
Ornithine binding site |
Neonatal |
Calvas et al. [1998] |
295 |
|
303 |
c.907T>G |
p.Cys303Gly |
BtsI, CviJI, TspRI |
|
Ornithine binding site |
Neonatal |
Tuchman et al. [2002] |
296 |
|
303 |
c.908G>A |
p.Cys303Tyr |
BtsI, TspRI |
|
Ornithine binding site |
Female |
Tuchman et al. [1997] |
297 |
|
304 |
c.912G>T |
p.Leu304Phe |
Cac8I, MwoI |
(6%) [74%] |
Ornithine binding site |
Late |
Tuchman et al. [1992] |
298 |
|
305 |
c.914C>G |
p.Pro305Arg |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
299 |
|
305 |
c.914C>A |
p.Pro305His |
HpyCH4V |
|
|
Female |
Climent and Rubio [2002b] |
300 |
|
309-310 |
c.(925-927)delGAA |
p.Glu309del |
MboII |
|
|
Late |
Tuchman et al. [1994b] |
301 |
|
310 |
c.928G>T |
p.Glu310X |
MboII |
|
|
Neonatal |
Reish et al. [1993] |
302 |
|
310 |
c.929A>G |
p.Glu310Gly |
MboII |
|
|
Late |
Yamaguchi et al. [2006] |
303 |
|
311 |
c.931G>A |
p.Val311Met |
|
|
|
Late |
Yamaguchi et al. [2006] |
304 |
|
314 |
c.940_942delGAA |
p.Glu314del |
|
|
|
Female |
Yamaguchi et al. [2006] |
305 |
|
315 |
c.943G>T |
p.Val315Phe |
ApoI, EcoRI, TspEI |
|
|
Female |
Yamaguchi et al. [2006] |
306 |
|
315 |
c.944T>A |
p.Val315Asp |
BbsI, MboII |
|
|
Female |
Tuchman et al. [2002] |
307 |
|
315 |
c.944T>G |
p.Val315Gly |
CviJI |
|
|
Female |
Tuchman et al. [2002] |
308 |
|
316 |
c.947T>C |
p.Phe316Ser |
BsmAI |
|
|
Female |
Tuchman et al. [2002] |
309 |
|
318 |
c.953C>T |
p.Ser318Phe |
BseRI |
|
|
Female |
Genet et al. [2000] |
310 |
|
320 |
c.958C>T |
p.Arg320X |
BclI, TaqI |
(10-15%) |
|
Neonatal |
Yoo et al. [1996] |
311 |
|
320 |
c.959G>T |
p.Arg320Leu |
DpnI, TaqI |
[3.9%] |
CpG dinucleotide |
Neonatal |
Grompe et al. [1991] |
312 |
|
321 |
c.962C>A |
p.Ser321X |
DpnI, MboI |
|
|
Neonatal |
Tuchman et al. [2002] |
313 |
|
326 |
c.976G>A |
p.Glu326Lys |
MnlI |
|
|
Female |
Popowska et al. [1999] |
314 |
|
328 |
c.982G>T |
p.Glu328X |
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
315 |
|
330 |
c.[988A>T; 989_990delGA] |
Frameshift |
DdeI |
|
Termination of translation |
Female |
Climent and Rubio [2002b] |
316 |
|
330 |
c.988A>G |
p.Arg330Gly |
|
|
|
Female |
Tuchman et al. [1997] |
317 |
|
331 |
c.991A>T |
p.Lys331X |
|
|
|
Female |
Yamaguchi et al. [2006] |
318 |
|
332 |
c.994T>A |
p.Trp332Arg |
Hpy8I, MnlI |
(0%) |
|
Neonatal |
Rapp et al. [2001] |
319 |
|
332 |
c.995G>A |
p.Trp332X |
AccI |
|
|
Neonatal |
Yamaguchi et al. [2006] |
320 |
|
332 |
c.996G>A |
p.Trp332X |
|
|
|
Neonatal |
Matsuura et al. [1994] |
321 |
|
335 |
c.1005G>A |
p.Met335Ile |
NlaIII |
|
|
Neonatal |
Tuchman et al. [2002] |
322 |
Intron 9 |
|
c.1005+1G>T |
|
MseI |
|
Donor splice site error |
Neonatal |
Tuchman et al. [1997] |
323 |
|
|
c.1005+2T>C |
|
Cac8I |
|
Donor splice site error |
Neonatal |
Tuchman et al. [2002] |
324 |
|
|
c.1006-3C>G |
|
BspHI, MnlI |
(2.7%) |
Acceptor splice site error |
Late |
Climent and Rubio [2002b] |
325 |
|
|
c.1006-1G>A |
|
AluI |
[23%] |
Acceptor splice site error |
Neonatal |
Gyato et al. [2004] |
326 |
Exon 10 |
336 |
c.1006G>T |
p.Ala336Ser |
CviJI |
|
|
Late |
Tuchman et al. [1998] |
327 |
|
337 |
c.1009G>C |
p.Val337Leu |
|
(<5%) |
|
Late |
Rohininath et al.[2004]; Matsuda and
Tanase [1997] |
328 |
|
339 |
c.1015G>C |
p.Val339Leu |
MwoI |
|
|
Neonatal |
Tuchman et al. [1997] |
329 |
|
340 |
c.1018T>C |
p.Ser340Pro |
BanI, BsmFI |
|
|
Female |
Oppliger Leibundgut et al. [1997] |
330 |
|
341 |
c.1022T>C |
p.Leu341Pro |
AciI, FauI |
|
|
Female |
Climent and Rubio [2002b] |
331 |
|
343 |
c.1028C>A |
p.Thr343Lys |
|
|
|
Female |
Tuchman and Plante [1995] |
332 |
|
345 |
c.1033T>C |
p.Tyr345His |
|
|
|
Late |
Yamaguchi et al. [2006] |
333 |
|
345 |
c.1033T>G |
p.Tyr345Asp |
HinfI, PleI |
|
|
Female |
Tuchman et al. [1992] |
334 |
|
345 |
c.1034A>G |
p.Tyr345Cys |
|
|
|
Neonatal |
Tuchman et al. [1998] |
335 |
|
347 |
c.1039C>A |
p.Pro347Thr |
BbvCI, Bpu10I, BsaXI, HphI, MnlI |
|
|
Female |
Yamaguchi et al. [2006] |
336 |
|
348 |
c.1042C>T |
p.Gln348X |
BbvCI, MnlI |
|
|
Female |
Oppliger Leibundgut et al. [1997] |
337 |
|
354 |
c.1061T>G |
p.Phe354Cys |
ApoI, Tsp509I |
(1.8%) |
|
Late |
Myers and Shook [1996] |
338 |
|
|
delExon 1-9 |
|
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
339 |
|
|
delExon 9 |
|
|
|
|
Female |
Yamaguchi et al. [2006] |
340 |
|
|
delExon 1-8 |
|
|
|
|
Neonatal |
Yamaguchi et al. [2006] |
341 |
|
|
delExon 2-4 |
|
|
|
|
Female |
Yamaguchi et al. [2006] |
|
The CP and ornithine binding sites were
identified from the crystal structure. CpG
dinucleotides and splice site mutations were
identified by bioinformatic analysis. |
|
|
a nucleotide +1is the A of the
ATG-translation initiation codon of RefSeq
NM_000531.3 |
|
|
|
|
|
b For
deletions or insertions, the cDNA nucleotide number
is given starting with the A of the initiation ATG
as nucleotide number 1. |
|
|
|
c Endonuclease recognition site |
|
|
|
|
|
|
|
d (%)
Residual enzyme activity in liver or intestine or
by expression studies, [15N] residual ammonium
nitrogen incorporation into urea |
|
|
|
e Neonatal (hyperammonemia within the first
week of life, severe phenotype). Late (late onset,
milder phenotype) |
|
|
|
f First
report of the mutation |
|
|
|
|
|
|