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. Author manuscript; available in PMC: 2010 Dec 1.
Published in final edited form as: Hum Mutat. 2009 Dec;30(12):1611–1619. doi: 10.1002/humu.21120

Table 1.

HGD variants and HGA urinary excretion in all NIH probands and affected siblings (gray)

#a Variant 1b Variant 2b Variant 3b HGA urine
g/24hc Nd
1 c.468+2T>C c.1102A>G; p.M368V 5.65 3.66
2 c.174delA; p.S59AfsX52 c.481G>A; p.G161R 4.69 2.82
3 c.174delA; p.S59AfsX52 c.473C>T; p.P158L 2.92 1.41
5 c.1076C>T; p.P359L c.1102A>G; p.M368V 2.07 2.17
6 c.342+1G>T c.342+1G>T 6.33 2.34
7 c.502G>A; p.E168K c.502G>A; p.E168K 8. 7 3.68
8 c.342+1G>T c.342+1G>T 3.99 1.82
9 c.125A>C; p.E42A c.125A>C; p.E42A 4.28 2.76
71 c.125A>C; p.E42A c.125A>C; p.E42A 7.41 4.81
78 c.125A>C; p.E42A c.125A>C; p.E42A 5.36 4.92
10 c.808G>A; p.G270R c.808G>A; p.G270R 7.3 3.01
11 c.174delA; p.S59AfsX52 c.174delA; p.S59AfsX52 2.84 2.62
12 c.481G>A; p.G161R c.1102A>G; p.M368V 4.44 2.51
72 c.481G>A; p.G161R c.1102A>G; p.M368V 5.03 2.62
13 c.359G>T; p.C120F c.1336T>C; p.X446RextX24 8.52 2.49
14 c.1007-2A>T c.1201G>C; p.E401Q 0.68 1.38
15 c.342+1G>A c.1017_1019delGAGinsTA; p.M339IfsX30 2.7 2.23
16 c.182T>C; p.L61P c.182T>C; p.L61P 3.8 2.21
73 c.182T>C; p.L61P c.182T>C; p.L61P 6.23 1.61
17 c.174delA; p.S59AfsX52 c.410T>C; p.L137P 1.92 5.3
18 c.359G>T; p.C120F c.1102A>G; p.M368V 6.65 2.96
19 c.342+1G>T c.1102A>G; p.M368V 2.01 1.35
20 c.413_434+35del57 c.1102A>G; p.M368V 6.2 2.78
21 c.1078G>C; p.G360R c.1102A>G; p.M368V 3.38 2.95
22 c.125A>C; p.E42A c.125A>C; p.E42A 3 4.24
23 c.481G>A; p.G161R c.559C>G; p.R187G 2.59 1.21
25 c.174delA; p.S59AfsX52 c.174delA; p.S59AfsX52 0.84 1.7
26 c.178T>G; p.W60G c.1102A>G; p.M368V 6.36 5.15
76 c.178T>G; p.W60G c.1102A>G; p.M368V 7.6 3.78
75 c.899T>G; p.V300G c.1078G>C; p.G360R 4.44 3.35
27 c.174delA; p.S59AfsX52 c.649G>T; p.G217W 7.58 3.62
28 c.359G>T; p.C120F c.1102A>G; p.M368V 3.71 2.98
29 c.11T>A; p.L4X c.1102A>G; p.M368V 4.38 2.46
30 c.11T>C; p.L4S c.359G>T; p.C120F 2.98 2.19
56 c.11T>C; p.L4S c.359G>T; p.C120F 4.85 2.84
31 c.899T>G; p.V300G c.1078G>C; p.G360R 7.37 4.01
32 c.11T>C; p.L4S c.359G>T; p.C120F 9.34 2.42
33 c.899T>G; p.V300G c.1102A>G; p.M368V 6.5 3.61
34 c.125A>C; p.E42A c.125A>C; p.E42A 5.34 2.79
35 c.549+1G>A c.1102A>G; p.M368V 1.64 1.64
36 c.447T>A; p.N149K c.502G>T; p.E168X c.1007-2A>T 2.93 1.66
77 c.217T>C; p.F73L c.1078G>C; p.G360R 5.13 2.36
79 c.481G>A; p.G161R c.688C>T; p.P230S 7.46 3.21
38 c.457dupG; p.D153GfsX26 c.481G>A; p.G161R 6.6 2.66
80 c.457dupG; p.D153GfsX26 c.481G>A; p.G161R 5.05 2.26
39 c.1102A>G; p.M368V c.1102A>G; p.M368V 4.75 5.55
40 c.274C>A; p.P92T NDe 4.1 2.03
41 c.185A>G; p.Y62C NDe 3.44 3.05
81 c.1017_1019delGAGinsTA; p.M339IfsX30 c.1017_1019delGAGinsTA; p.M339IfsX30 6.81 2.59
82 c.1017_1019delGAGinsTA; p.M339IfsX30 c.1017_1019delGAGinsTA; p.M339IfsX30 3.31 1.58
74 c.1017_1019delGAGinsTA; p.M339IfsX30 c.1017_1019delGAGinsTA; p.M339IfsX30 10.14 2.54
43 c.481G>A; p.G161R c.481G>A; p.G161R 1.43 0.85
44 c.773A>C; p.Q258P c.1336T>C; p.X446RextX24 4.75 3.34
45 c.504G>C; p.E168D c.504G>C; p.E168D 2.32 1.77
46 c.365C>T; p.A122V c.1078G>C; p.G360R 4.46 2.52
47 c.365C>T; p.A122V c.365C>T; p.A122V 6.4 6.03
48 c.360T>G; p.C120W c.360T>G; p.C120W 3.45 3.4
49 c.289T>C; p.W97R c.359G>T; p.C120F 3.91 2.05
50 c.376_377delAA; p.K126VfsX2 c.376_377delAA; p.K126VfsX2 2.99 1.8
51 c.289T>C; p.W97R c.359G>T; p.C120F 2.49 1.81
83 c.504G>C; p.E168D c.504G>C; p.E168D 4.31 5.01
84 c.457dupG; p.D153GfsX26 c.457dupG; p.D153GfsX26 2.38 1.22
52 c.178T>G; pW60G NDe 2.69 3.61
53 c.481G>A; p.G161R c.962G>A; p.R321P 0.39 0.98
85 c.413_434+35del57 c.1102A>G; p.M368V 2.25 2.78
54 c.342+1G>T c.1102A>G; p.M368V 4.09 1.91
55 c.359G>T; p.C120F c.1102A>G; p.M368V 4.06 2.99
57 c.16-1G>A c.481G>A; p.G161R 6.26 3.25
86 c.16-1G>A c.481G>A; p.G161R 6.34 2.2
37 c.16-1G>A c.481G>A; p.G161R 2.52 2.11
58 c.1102A>G; p.M368V c.1102A>G; p.M368V 1.68 1.79
59 c.1017_1019delGAGinsTA; p.M339IfsX30 c.1118C>T; p.P373L 7.55 4.79
60 c.1102A>G; p.M368V c.1111dupC; p.H371PfsX4 8.21 2.61
61 c.410T>C; p.L137P c.410T>C; p.L137P 3.4 3.07
62 c.674G>T; p.R225L c.1111dupC; p.H371PfsX4 8.48 5.5
87 c.367G>A; p.G123R c.367G>A; p.G123R 6.37 4.6
63 c.688C>T; p.P230S c.1102A>G; p.M368V 4.84 3.61
64 c.549G>T; p.Q183R c.1102A>G; p.M368V 6.44 2.91
65 c.359G>T; p.C120F c.1078G>C; p.G360R 5.29 2.85
88 c.174delA; p.S59AfsX52 c.1102A>G; p.M368V 4.96 1.84
89 c.502G>A; p.E168K c.502G>A; p.E168K 9.79 4.19
90 c.502G>A; p.E168K c.502G>A; p.E168K 6.4 2.92
66 c.1085G>A; p.G362E c.1102A>G; p.M368V 4.87 2.23
67 c.899T>G; p.V300G c.1102A>G; p.M368V 3.36 3.59
68 c.359G>T; p.C120F c.1078G>C; p.G360R 3.36 5.11
69 c.1102A>G; p.M368V NDe 3.09 1.89
91 c.1102A>G; p.M368V NDe 2.68 1.9
70 c.174delA; p.S59AfsX52 c.1006+2T>A 4.34 3.15
92 c.174delA; p.S59AfsX52 c.1006+2T>A 3.67 2.51
93 c.8A>C; p.E3A c.773A>C; p.Q258P c.914C>T; p.S305F 7.82 5.96
94 c.16-1G>A c.481G>A; p.G161R c.1017_1019delGAGinsTA; p.M339IfsX30 4.64 5.54
95 c.174delA; p.S59AfsX52 c.1078G>C; p.G360R 7.34 3.96
96 c.502G>A; p.E168K c.806A>G; p.H269R 9.09 3.03
a

Patient numbers correspond to a master file of all NHGRI patients with AKU

b

DNA variant numbering system is based on cDNA (NM_000187.2), with +1 corresponding to the A of the ATG. The initiation codon is codon 1

c

Normal: <0.03g/24h

d

Urinary HGA normalized to urinary creatinine (μmoles HGA/μmoles creatinine), normal: <0.01

e

ND: Not Determined