Skip Navigation
  Print Page

Key Variables for Cases Evaluated for PKUCS Follow up Study

Skip sharing on social media links
Share this:

LEGEND FOR VARIABLES LISTED IN APPENDIX

CASE ID number
AGEDDC Age (years) at diet discontinuation (X if never)
AGEDRS Age (years) diet resumed (X is never)
AGEDC2 Age discontinued a second time (X if never)
CURRMF Currently taking medical food? (Y=yes, N=no)
CURRPHE Current phe level (mg/dl)
CURRTYR Current tyrosine level (mg/dl)
USUALPHE Usual phe level (current phe unless recently returned to diet, in which case this is the level prior to resuming diet)
IDCA12 6-month median phe age 5.5-6 years IDCB8 6-month median phe age 9.5-10 years
IDCB8 6-month median phe age 9.5-10 years
CIDCFU median of all reported phe levels since age 12
MU1 Mutation
MU2 "
MCLASS1 Classification of mutation 1
MCLASS2 Classification of mutation 2
PARF Mid-parent full scale IQ
WISC10F 10-year WISC Full scale IQ
WISC12F 12-year WISC-R Full scale IQ
VIQFU Adult WAIS-R verbal IQ
PIQFU " " performance IQ
FIQFU " " full scale IQ
READFU Adult WRAT reading
SPELLFU " " spelling
ARITHFU " " arithmetic

Back to Appendix B Figures and Tables

Key Variables for Cases Evaluated for PKUCS Follow up Study

Ordered by Usual Adult Phe Level

20: 17 Thursday, August 31, 2000

Phe < 16.0 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 CI D C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 P A R F W I S C 1 0 F W I S C 1 2 F V I Q F U P I Q F U F I Q F U R E A D F U S P E L L F U A R I T HFU
Q-04 10.0 26.0 X Y 3.8 . 3.8 5.3 11.3 8 IVS12 NT1G>A ? SEV . 124 103 110 102 118 108 105 108 98
F-01 X X X Y 5.0 . 5.0 4.4 13.1 8 IVS1 NT5G>T IVS12 NT1G>A SEV SEV 113 102 89 103 92 99 109 110 98
E-17 14.0 28.0 X Y 6.0 . 6.0 7.7 5.8 8 R261Q IVS10 NT-11G>A MOD SEV 132 105 107 96 113 102 101 100 105
H-05 6.2 29.0 X Y 7.7 1.52 10.0 11.9 15.5 10 IVS4 NT-1G>A L249F SEV MOD 112 120 126 114 118 119 103 97 115
G-07 6.0 24.0 X Y 10.7 1.58 10.7 7.2 39.3 21 P225T R408W ? SEV . 90 . 89 96 91 105 104 98
A-08 X X X Y 12.2 1.67 12.2 12.7 3.2 . R408W R408W SEV SEV 122 113 115 109 114 112 114 119 105
L-22 X X X Y 14.9 1.38 14.9 13.1 12.6 14 IVS12 NT1G>A R261Q SEV MOD 109 95 96 114 98 113 114 110 96
F-10 16.5 24.0 28.0 Y 1.4 0.94 15.0 11.9 16.4 13 I65T IVS7N T1G>A MOD SEV 121 130 117 129 138 136 114 108 112
A-10 17.0 24.0 28.0 N 15.2 0.38 15.2 5.0 6.3 12 F39L IVS12 NT1G>A MOD SEV 111 112 102 94 110 100 . . .
F-07 X X X Y 15.3 . 15.3 9.7 10.0 14 I65T R408W MOD SEV 109 104 95 104 107 106 105 108 100
L-01 6.3 30.0 X Y 15.8 1.00 15.8 11.1 24.8 24 Y387H DELT323 ? ? 113 99 91 109 121 116 107 104 100

Phe 16.0 - 19.9 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 CI D C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 P A R F W I S C 1 0 F W I S C 1 2 F V I Q F U P I Q F U F I Q F U R E A D F U S P E L L F U A R I T HFU
L-27 4.8 24.0 X Y 16.0 0.98 16.0 25.8 25.4 23 F55F SDELT ? SEV . 81 . 70 75 77 75 75 76 74
D-22 17.0 X X N 17.0 . 17.0 14.3 15.4 . I65T IVS12 nt1g>a MOD SEV 104 109 96 88 99 91 . . .
K-01 6.0 27.0 28.0 Y 4.2 0.80 17.0 8.2 20.7 11 IVS10 NT-11G>A G218V SEV SEV 100 84 . 86 82 83 90 97 84
L-36 14.0 21.0 21.0 Y 17.4 1.59 17.4 13.3 14.6 16 R408W R408W SEV SEV 100 86 90 97 110 102 103 108 96
H-02 6.0 28.0 29.0 N 17.6 0.82 17.6 10.4 14.7 . Y216X S273F SEV SEV 101 104 96 90 101 94 99 100 93
L-32 6.0 17.0 X Y 17.8 0.87 17.8 14.2 28.2 22 A259V G352 FSDELG SEV SEV 109 92 91 98 106 101 101 100 98
E-25 6.2 X X N 18.0 18.0 10.1 16.8 . IVS10 NT-11G>A IVS12 NT1G>A SEV SEV 106 95 87 86 98 89 97 100 96
L-25 6.0 23.0 23.3 Y 1.7 1.83 18.0 16.5 29.5 23 T81P F39L SEV MOD 100 111 98 83 108 91 90 87 89
E-27 5.9 X X N 19.0 19.0 10.9 19.4 .     . . 113 . 119 112 116 116 107 110 129
I-12 X X X Y 19.1 1.56 19.1 10.2 10.0 16 R408W IVS12 NT1G>A SEV SEV 113 101 97 94 102 97 97 106 89
L-07 8.0 27.0 X Y 19.6 . 19.6 13.0 17.3 25 F299C R408W SEV SEV 100 115 112 119 126 126 112 104 108
L-30 X X X Y 19.6 1.03 19.6 6.8 13.7 18 IVS10 NT-11G>A I65T SEV MOD 113 105 97 105 102 103 103 102 93
D-26 10.0 X X ? 19.8 . 19.8 12.3 20.5 . R408W R408W SEV SEV 102 107 103 97 96 97 . . .
L-03 13.7 X X N 19.8 0.80 19.8 13.4 16.6 20 Y277D R408W MLD SEV 101 107 97 103 108 105 . . .
K-09 15.0 X X N 19.9 0.72 19.9 8.2 11.3 13 L48S IVS10 NT-11G>A MLD SEV 108 109 . 95 98 96 94 104 89
H-15 6.0 24.0 25.0 N 19.9 0.45 19.9 13.0 30.2 17 P281L IVS12 NT1G>A SEV SEV 107 107 100 93 91 91 107 102 98
T-04 6.7 X X N 19.9 0.62 19.9 20.4 29.8 . L194P R408W SEV SEV 105 83 . 79 70 74 97 100 91

Back to Appendix B Figures and Tables

Phe 20.0 - 23.9 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R RP H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C I D C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
S-07 6.4 X X N 20.1 0.65 20.1 9.4 26.1 23 Y356X P281L SEV SEV 127 107 101 97 110 102 99 106 93
A-03 6.0 X X N 20.9 0.63 20.9 14.5 25.5 27 R158Q R408W SEV SEV 114 92 . 83 74 77 90 97 91
F-02 12.0 X X N 21.0 . 21.0 20.6 21.7 20 I65T R408W MOD SEV 115 83 79 86 78 80 97 104 93
E-31 5.9 X X N 21.6 0.69 21.6 16.6 23.2 . E280K R261Q SEV MOD 111 112 106 104 95 100 109 102 100
H-03 6.0 X X N 21.6 0.71 21.6 9.3 24.5 23 DELI9 IVS10 NT-11G>A MLD SEV 105 70 70 74 72 72 73 70 79
L-13 6.1 30.0 X Y 21.8 2.52 21.8 11.8 21.9 23 R252W P281L SEV SEV 104 93 91 98 116 105 103 102 84
E-15 6.0 X X N 22.0 . 22.0 8.5 21.6 . I65T R408W MOD SEV 129 112 112 112 110 112 94 123 110
L-18 X X X Y 22.6 0.56 22.6 8.2 11.9 17 IVS12 NT1G>A IVS12 NT1G>A SEV SEV 100 117 105 128 108 123 105 106 104
T-01 6.0 12.0 12.0 N 22.8 0.89 22.8 13.7 32.3 . R158Q R408W SEV SEV . 104 93 84 89 84 79 74
A-02 6.1 12.0 X Y 23.0 . 23.0 11.6 26.0 . R408W R408W SEV SEV 96 94 69 79 84 79 . . 74
N-02 6.0 X X N 23.5 1.00 23.5 18.4 26.4 . F39L IVS12 NT1G>A MOD SEV 103 104 . 94 94 94 107 106 93

Phe 24.0 - 27.9 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R RP H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C I D C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
E-08 6.0 X X N 24.0 . 24.0 13.2 37.9 .     . . 102 80 80 72 77 73 . .
N-03 15.0 30.0 X Y 13.5 0.62 24.0 23.7 24.0 . I65T Y414X MOD SEV 87 . 62 72 74 72 44 44 44
K-17 6.8 8.0 24.0 N 24.6 0.76 24.6 8.9 19.4 17 R158Q R408W SEV SEV 111 95 109 99 101 99 105 110 93
E-05 6.0 23.0 24.0 Y 25.0 . 25.0 14.0 29.2 24 IVS12 NT1G>A R408W SEV SEV 116 83 92 87 93 87 88 89 89
E-22 6.0 X X N 25.0 . 25.0 17.1 25.1 . IVS12 NT1G>A IVS12NT1G>A SEV SEV 128 96 . 97 93 95 101 102 129
Q-03 6.5 X X N 25.0 . 25.0 12.0 23.9 .     . . 114 105 104 88 95 89 94 95 96
N-09 7.9 X X N 25.7 0.92 25.7 14.0 23.4 . L15/S 16FS DELCT E221 D222 FSDE LAG SEV SEV 106 . 105 88 89 87 103 106 93
E-11 6.0 X X N 25.8 0.71 25.8 15.0 25.0 . Y356X R408W SEV SEV 100 104 102 94 112 100 94 85 89
S-01 6.0 X X N 25.8 . 25.8 16.1 25.0 17 R252Q IVS10 NT-11G>A SEV SEV 97 . . 82 89 83 90 76 81
E-30 6.0 X X N 26.0 . 26.0 15.8 23.9 .   . . 92 115 107 88 104 94 84 91 96
L-10 7.9 14.0 18.0 N 26.3 0.83 26.3 5.5 21.8 22 Y277D Y204C MLD SEV 113 111 115 116 108 114 109 106 110
R-03 10.0 X X N 26.4 . 26.4 10.1 26.0 26     . . . 75 67 68 79 72 54 55 53
L-35 X X N 27.9 0.60 27.9 13.5 12.4 21 E280K DELE 2/IVS2 NT1 SEV SEV 75 83 85 88 81 83 . . .

Back to Appendix B Figures and Tables

Phe >= 28.0 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
I-16 20.0 24.0 24.0 N 28.3 0.71 28.3 7.0 14.0 16 G272X R408W SEV SEV 114 . 110 101 98 99 103 102 103
T-05 14.5 X X N 29.1 0.96 29.1 12.4 19.2 . G272X R408W SEV SEV 118 101 . 103 93 98 114 112 105
E-02 6.0 X X N 30.0 . 30.0 11.5 28.8 .     . . 116 115 115 102 96 99 116 106 105
N-04 6.4 X X N 30.0 . 30.0 15.6 30.9 .     . . 96 95 . 91 85 87 92 87 81
Q-06 6.1 X X N 30.0 1.23 30.0 10.2 37.8 25 I65T ? MOD . 82 88 81 79 87 80 90 95 91
I-17 12.0 X X Y 32.5 1.07 32.5 8.2 6.0 26 L213P R408W ? SEV 114 . . 104 142 124 107 95 96
E-26 6.0 X X N 32.7 0.87 32.7 20.2 31.8 .     . . 96 67 70 71 77 73 60 55 55
A-05 6.0 X X N 34.0 1.70 34.0 10.3 27.8 27 R408W G272X SEV SEV 116 99 91 . . . . . .
H-14 6.0 X X N 34.6 1.12 34.6 21.0 27.5 20 R408W R158Q SEV SEV 102 90 89 86 93 87 90 89 79
N-08 6.1 X X N 35.0 . 35.0 19.6 35.0 .     . . 97 . 71 . . . . . .
S-05 6.7 7.0 15.0 N 37.4 0.98 37.4 12.5 18.4 26 P281L R408W SEV SEV 106 72 80 82 78 78 114 110 70
A-13 12.0 X X N 37.5 0.87 37.5 10.9 16.6 25 I65T A246F SDELC MOD SEV 103 88 . 81 81 79 84 85 93
K-03 5.9 10.0 21.0 Y 40.0 1.81 40.0 10.8 26.5 20 P281L IVS10 NT-11G>A SEV SEV 108 102 85 88 93 88 107 110 98
N-07 6.1 X X N 40.0 . 40.0 6.5 40.8 .     . . 124 . 80 . . . 92 . .
E-20 6.8 15.0 16.5 N 40.9 1.92 40.9 10.1 27.3 18     . . 118 9 92 86 104 82 85 79

Back to Appendix B Figures and Tables

Phe < 16.0 mg/dL

C A S E A G E D D C A G E D RS A G E D C 2 C U R R M F CURR PHE C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 CI D C F U M U 1 M U 2 MC L A S S 1 M CL A S S 2 PAR F W IS C 1 0 F WISC 12F VIQFU PIQF U FIQF U R E A DF U S P E L LF U A R I T HFU
Q-04 10.0 26.0 X Y 3.8 . 3.8 5.3 11.3 8 IVS12 NT1G>A ? SEV . 124 103 110 102 118 108 105 108 98
F-01 X X X Y 5.0 . 5.0 4.4 13.1 8 IVS1 NT5G>T IVS12 NT1G>A SEV SEV 113 102 89 103 92 99 109 110 98
E-17 14.0 28.0 X Y 6.0 . 6.0 7.7 5.8 8 R261Q IVS10 NT-11G>A MOD SEV 132 105 107 96 113 102 101 100 105
H-05 6.2 29.0 X Y 7.7 1.52 10.0 11.9 15.5 10 IVS4 NT-1G>A L249F SEV MOD 112 120 126 114 118 119 103 97 115
G-07 6.0 24.0 X Y 10.7 1.58 10.7 7.2 39.3 21 P225T R408W ? SEV . 90 . 89 96 91 105 104 98
A-08 X X X Y 12.2 1.67 12.2 12.7 3.2 . R408W R408W SEV SEV 122 113 115 109 114 112 114 119 105
L-22 X X X Y 14.9 1.38 14.9 13.1 12.6 14 IVS12 NT1G>A R261Q SEV MOD 109 95 96 114 98 113 114 110 96
F-10 16.5 24.0 28.0 Y 1.4 0.94 15.0 11.9 16.4 13 I65T IVS7 NT1G>A MOD SEV 121 130 117 129 138 136 114 108 112
A-10 17.0 24.0 28.0 N 15.2 0.38 15.2 5.0 6.3 12 F39L IVS1 2NT1G>A MOD SEV 111 112 102 94 110 100 . . .
F-07 X X X Y 15.3 . 15.3 9.7 10.0 14 I65T R408W MOD SEV 109 104 95 104 107 106 105 108 100
L-01 6.3 30.0 X Y 15.8 1.00 15.8 11.1 24.8 24 Y387H DELT323 ? ? 113 99 91 109 121 116 107 104 100

Phe 16.0 - 19.9 mg/dL

C A S E A G E D D C A G E D RS A G E D C 2 C U R R M F CURR PHE C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 CI D C F U M U 1 M U 2 MC L A S S 1 M CL A S S 2 PAR F W IS C 1 0 F WISC 12F VIQFU PIQF U FIQF U R E A DF U S P E L LF U A R I T HFU
L-27 4.8 24.0 X Y 16.0 0.98 16.0 25.8 25.4 23 F55F SDELT ? SEV . 81 . 70 75 77 75 75 76 74
D-22 17.0 X X N 17.0 . 17.0 14.3 15.4 . I65T IVS12 nt1g>a MOD SEV 104 109 96 88 99 91 . . .
K-01 6.0 27.0 28.0 Y 4.2 0.80 17.0 8.2 20.7 11 IVS1 0NT-11G>A G218V SEV SEV 100 84 . 86 82 83 90 97 84
L-36 14.0 21.0 21.0 Y 17.4 1.59 17.4 13.3 14.6 16 R408W R408W SEV SEV 100 86 90 97 110 102 103 108 96
H-02 6.0 28.0 29.0 N 17.6 0.82 17.6 10.4 14.7 . Y216X S273F SEV SEV 101 104 96 90 101 94 99 100 93
L-32 6.0 17.0 X Y 17.8 0.87 17.8 14.2 28.2 22 A259V G352 FSDELG SEV SEV 109 92 91 98 106 101 101 100 98
E-25 6.2 X X N 18.0 . 18.0 10.1 16.8 . IVS1 0NT-11G>A IVS12 NT1G>A SEV SEV 106 95 87 86 98 89 97 100 96
L-25 6.0 23.0 23.3 Y 1.7 1.83 18.0 16.5 29.5 23 T81P F39L SEV MOD 100 111 98 83 108 91 90 87 89
E-27 5.9 X X N 19.0 . 19.0 10.9 19.4 .     . . 113 . 119 112 116 116 107 110 129
I-12 X X X Y 19.1 1.56 19.1 10.2 10.0 16 R408W IVS12 NT1G>A SEV SEV 113 101 97 94 102 97 97 106 89
L-07 8.0 27.0 X Y 19.6 . 19.6 13.0 17.3 25 F299C R408W SEV SEV 100 115 112 119 126 126 112 104 108
L-30 X X X Y 19.6 1.03 19.6 6.8 13.7 18 IVS1 0NT-11G>A I65T SEV MOD 113 105 97 105 102 103 103 102 93
D-26 10.0 X X ? 19.8 . 19.8 12.3 20.5 . R408W R408W SEV SEV 102 107 103 97 96 97 . . .
L-03 13.7 X X N 19.8 0.80 19.8 13.4 16.6 20 Y277D R408W MLD SEV 101 107 97 103 108 105 . . .
K-09 15.0 X X N 19.9 0.72 19.9 8.2 11.3 13 L48S IVS10 NT-11G>A MLD SEV 108 109 . 95 98 96 94 104 89
H-15 6.0 24.0 25.0 N 19.9 0.45 19.9 13.0 30.2 17 P281L IVS12 NT1G>A SEV SEV 107 107 100 93 91 91 107 102 98
T-04 6.7 X X N 19.9 0.62 19.9 20.4 29.8 . L194P R408W SEV SEV 105 83 . 79 70 74 97 100 91

Back to Appendix B Figures and Tables

Phe 20.0 - 23.9 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F W I S C 1 0 F W I S C 1 2 F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
S-07 6.4 X X N 20.1 0.65 20.1 9.4 26.1 23 Y356X P281L SEV SEV 127 107 101 97 110 102 99 106 93
A-03 6.0 X X N 20.9 0.63 20.9 14.5 25.5 27 R158Q R408W SEV SEV 114 92 . 83 74 77 90 97 91
F-02 12.0 X X N 21.0 . 21.0 20.6 21.7 20 I65T R408W MOD SEV 115 83 79 86 78 80 97 104 93
E-31 5.9 X X N 21.6 0.69 21.6 16.6 23.2 . E280K R261Q SEV MOD 111 112 106 104 95 100 109 102 100
H-03 6.0 X X N 21.6 0.71 21.6 9.3 24.5 23 DELI94 IVS10 NT-11G>A MLD SEV 105 70 70 74 72 72 73 70 79
L-13 6.1 30.0 X Y 21.8 2.52 21.8 11.8 21.9 23 R252W P281L SEV SEV 104 93 91 98 116 105 103 102 84
E-15 6.0 X X N 22.0 . 22.0 8.5 21.6 . I65T R408W MOD SEV 129 112 112 112 110 112 94 123 110
L-18 X X X Y 22.6 0.56 22.6 8.2 11.9 17 IVS12 NT1G>A IVS12 NT1G>A SEV SEV 100 117 105 128 108 123 105 106 104
T-01 6.0 12.0 12.0 N 22.8 0.89 22.8 13.7 32.3 . R158Q R408W SEV SEV . 104 93 84 89 84 79 74 74
A-02 6.1 12.0 X Y 23.0 . 23.0 11.6 26.0 . R408W R408W SEV SEV 96 94 69 79 84 79 . . .
N-02 6.0 X X N 23.5 1.00 23.5 18.4 26.4 . F39L IVS12 NT1G>A MOD SEV 103 104 . 94 94 94 107 106 93

Phe 24.0 - 27.9 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F W I S C 1 0 F W I S C 1 2 F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
E-08 6.0 X X N 24.0 . 24.0 13.2 37.9 .     .   102 80 80 77 73 . . .
N-03 15.0 30.0 X Y 13.5 0.62 24.0 23.7 24.0 . I65T Y414X MOD SEV 87 . 62 72 74 72 44 44 44
K-17 6.8 8.0 24.0 N 24.6 0.76 24.6 8.9 19.4 17 R158Q R408W SEV SEV 111 95 109 99 101 99 105 110 93
E-05 6.0 23.0 24.0 Y 25.0 . 25.0 14.0 29.2 24 IVS12 NT1G>A R408W SEV SEV 116 83 92 87 93 87 88 89 89
E-22 6.0 X X N 25.0 . 25.0 17.1 25.1 . IVS12 NT1G>A IVS12 NT1G>A SEV SEV 128 96 . 97 93 95 101 102 129
Q-03 6.5 X X N 25.0 . 25.0 12.0 23.9 .     . . 114 105 104 88 95 89 94 95 96
N-09 7.9 X X N 25.7 0.92 25.7 14.0 23.4 . L15/ S16F SDEL CT E221 D222 FSDE LAG SEV SEV 106 . 105 88 89 87 103 106 93
E-11 6.0 X X N 25.8 0.71 25.8 15.0 25.0 . Y356X R408W SEV SEV 100 104 102 94 112 100 94 85 89
S-01 6.0 X X N 25.8 . 25.8 16.1 25.0 17 R252Q IVS1 0NT- 11G>A SEV SEV 97 . . 82 89 83 90 76 81
E-30 6.0 X X N 26.0 . 26.0 15.8 23.9 .     . . 92 115 107 88 104 94 84 91 96
L-10 7.9 14.0 18.0 N 26.3 0.83 26.3 5.5 21.8 22 Y277D Y204C MLD SEV 113 111 115 116 108 114 109 106 110
R-03 10.0 X X N 26.4 . 26.4 10.1 26.0 26     . . 75 67 68 79 72 54 55 53
L-35 18.0 X X N 27.9 0.60 27.9 13.5 12.4 21 E280K DELE 2/IVS2NT1 SEV SEV 75 83 85 88 81 83 . . .

Back to Appendix B Figures and Tables

Phe >= 28.0 mg/dL

C A S E A G E D D C A G E D R S A G E D C 2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
I-16 20.0 24.0 24.0 N 28.3 0.71 28.3 7.0 14.0 16 G272X R408W SEV SEV 114 . 110 101 98 99 103 102 103
T-05 14.5 X X N 29.1 0.96 29.1 12.4 19.2 . G272X R408W SEV SEV 118 101 . 103 93 98 114 112 105
E-02 6.0 X X N 30.0 . 30.0 11.5 28.8 .     . . 116 115 115 102 96 99 116 106 105
N-04 6.4 X X N 30.0 . 30.0 15.6 30.9 .     . . 96 95 . 91 85 87 92 87 81
Q-06 6.1 X X N 30.0 1.23 30.0 10.2 37.8 25 I65T ? MOD . 82 88 81 79 87 80 90 95 91
I-17 12.0 X X Y 32.5 1.07 32.5 8.2 6.0 26 L213P R408W ? SEV 114 . . 104 142 124 107 95 96
E-26 6.0 X X N 32.7 0.87 32.7 20.2 31.8 .     . . 96 67 70 71 77 73 60 55 55
A-05 6.0 X X N 34.0 1.70 34.0 10.3 27.8 27 R408W G272X SEV SEV 116 99 91 . . . . . .
H-14 6.0 X X N 34.6 1.12 34.6 21.0 27.5 20 R408W R158Q SEV SEV 102 90 89 86 93 87 90 89 79
N-08 6.1 X X N 35.0 . 35.0 19.6 35.0 .     . . 97 . 71 . . . . . .
S-05 6.7 7.0 15.0 N 37.4 0.98 37.4 12.5 18.4 26 P281L R408W SEV SEV 106 72 80 82 78 78 114 110 70
A-13 12.0 X X N 37.5 0.87 37.5 10.9 16.6 25 I65T A246F SDELC MOD SEV 103 88 . 81 81 79 84 85 93
K-03 5.9 10.0 21.0 Y 40.0 1.81 40.0 10.8 26.5 20 P281L IVS10 NT-11G>A SEV SEV 108 102 85 88 93 88 107 110 98
N-07 6.1 X X N 40.0 . 40.0 6.5 40.8 .     . . 124 . 80 . . . . . .
E-20 6.8 15.0 16.5 N 40.9 1.92 40.9 10.1 27.3 18     . . 118 99 92 86 104 92 82 85 79

Back to Appendix B Figures and Tables

<= 6.5 years

CASE A G E D D C A G E D R S A G E D C 2 C U R R M F CURR P H E C U R R T Y R US U ALPHE I D C A 1 2 I D C B 8 CI D C F U M U 1 M U 2 MC L A S S 1 M CL A S S 2 PARF W IS C 1 0 F W I S C 1 2 F V I Q F U P I Q F U F I QF U R E A DF U S P E L LF U A R ITHFU
L-27 4.8 24.0 X Y 16.0 0.98 16.0 25.8 25.4 23.4 F55F SDELT ? SEV . 81 . 70 75 77 75 75 76 74
E-31 5.9 X X N 21.6 0.69 21.6 16.6 23.2 . E280K R261Q SEV MOD 111 112 106 104 95 100 109 102 100
E-27 5.9 X X N 19.0 . 19.0 10.9 19.4 .     . . 113 . 119 112 116 116 107 110 129
K-03 5.9 10.0 21.0 Y 40.0 1.81 40.0 10.8 26.5 20.4 P281L IVS10 NT-11G>A SEV SEV 108 102 85 88 93 88 107 110 98
E-15 6.0 X X N 22.0 . 22.0 8.5 21.6 . I65T R408W MOD SEV 129 112 112 112 110 112 94 123 110
E-30 6.0 X X N 26.0 . 26.0 15.8 23.9 .     . . 92 115 107 88 104 94 84 91 96
G-07 6.0 24.0 X Y 10.7 1.58 10.7 7.2 39.3 21.3 P225T R408W ? SEV . 90 . 89 96 91 105 104 98
E-08 6.0 X X N 24.0 . 24.0 13.2 37.9 .     . . 102 80 80 72 77 73 . . .
E-05 6.0 23.0 24.0 Y 25.0 . 25.0 14.0 29.2 24.3 IVS1 2NT1G>A R408W SEV SEV 116 83 92 87 93 87 88 89 89
K-01 6.0 27.0 28.0 Y 4.2 0.80 17.0 8.2 20.7 10.8 IVS1 0NT-11G>A G218V SEV SEV 100 84 . 86 82 83 90 97 84
H-02 6.0 28.0 29.0 N 17.6 0.82 17.6 10.4 14.7 . Y216X S273F SEV SEV 101 104 96 90 101 94 99 100 93
L-25 6.0 23.0 23.3 Y 1.7 1.83 18.0 16.5 29.5 23.1 T81P F39L SEV MOD 100 111 98 83 108 91 90 87 89
H-15 6.0 24.0 25.0 N 19.9 0.45 19.9 13.0 30.2 17.2 P281L IVS12 NT1G>A SEV SEV 107 107 100 93 91 91 107 102 98
H-03 6.0 X X N 21.6 0.71 21.6 9.3 24.5 23.3 DELI94 IVS10 NT-11G>A MLD SEV 105 70 70 74 72 72 73 70 79
N-02 6.0 X X N 23.5 1.00 23.5 18.4 26.4 . F39L IVS12 NT1G>A MOD SEV 103 104 . 94 94 94 107 106 93
E-22 6.0 X X N 25.0 . 25.0 17.1 25.1 . IVS1 2NT1G>A IVS12 NT1G>A SEV SEV 128 96 . 97 93 95 101 102 129
E-11 6.0 X X N 25.8 0.71 25.8 15.0 25.0 . Y356X R408W SEV SEV 100 104 102 94 112 100 94 85 89
S-01 6.0 X X N 25.8 . 25.8 16.1 25.0 17.1 R252Q IVS10 NT-11G>A SEV SEV 97 . . 82 89 83 90 76 81
E-02 6.0 X X N 30.0 . 30.0 11.5 28.8 .     . . 116 115 115 102 96 99 116 106 105
E-26 6.0 X X N 32.7 0.87 32.7 20.2 31.8 .     . . 96 67 70 71 77 73 60 55 55
A-05 6.0 X X N 34.0 1.70 34.0 10.3 27.8 27.2 R408W G272X SEV SEV 116 99 91 . . . . . .
H-14 6.0 X X N 34.6 1.12 34.6 21.0 27.5 20.0 R408W R158Q SEV SEV 102 90 89 86 93 87 90 89 79
T-01 6.0 12.0 12.0 N 22.8 0.89 22.8 13.7 32.3 . R158Q R408W SEV SEV . 104 93 84 89 84 79 74 74
A-03 6.0 X X N 20.9 0.63 20.9 14.5 25.5 27.2 R158Q R408W SEV SEV 114 92 . 83 74 77 90 97 91
L-32 6.0 17.0 X Y 17.8 0.87 17.8 14.2 28.2 22.0 A259V G352 FSDELG SEV SEV 109 92 91 98 106 101 101 100 98
L-13 6.1 30.0 X Y 21.8 2.52 21.8 11.8 21.9 23.3 R252W P281L SEV SEV 104 93 91 98 116 105 103 102 84
A-02 6.1 12.0 X Y 23.0 . 23.0 11.6 26.0 . R408W R408W SEV SEV 96 94 69 79 84 79 . . .
N-07 6.1 X X N 40.0 . 40.0 6.5 40.8 . . . 124 . 80 . . . . . .
Q-06 6.1 X X N 30.0 1.23 30.0 10.2 37.8 25.1 I65T ? MOD . 82 88 81 79 87 80 90 95 91

Back to Appendix B Figures and Tables

C A S E A G E D D C A G E D R S AGEDC2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
N-08 6.1 X X N 35.0 . 35.0 19.6 35.0 .     . . 97 . 71 . . . . . .
H-05 6.2 29.0 X Y 7.7 1.52 10.0 11.9 15.5 9.9 IVS4 NT-1G>A L24 9F SEV MOD 112 120 126 114 118 119 103 97 115
E-25 6.2 X X N 18.0 . 18.0 10.1 16.8 . IVS1 0NT-11G>A IVS12 NT1G>A SEV SEV 106 95 87 86 98 89 97 100 96
L-01 6.3 30.0 X Y 15.8 1.00 15.8 11.1 24.8 23.9 Y387H DELT323 ? ? 113 99 91 109 121 116 107 104 100
S-07 6.4 X X N 20.1 0.65 20.1 9.4 26.1 23.0 Y356X P281L SEV SEV 127 107 101 97 110 102 99 106 93
N-04 6.4 X X N 30.0 . 30.0 15.6 30.9 . . . 96 95 . 91 85 87 92 87 81
Q-03 6.5 X X N 25.0 . 25.0 12.0 23.9 .     . . 114 105 104 88 95 89 94 95 96

6.6 - 12.5 years

C A S E A G E D D C A G E D R S AGEDC2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
S-05 6.7 7.0 15.0 N 37.4 0.98 37.4 12.5 18.4 25.8 P281L R408W SEV SEV 106 72 80 82 78 78 114 110 70
T-04 6.7 X X N 19.9 0.62 19.9 20.4 29.8 . L194P R408W SEV SEV 105 83 . 79 70 74 97 100 91
K-17 6.8 8.0 24.0 N 24.6 0.76 24.6 8.9 19.4 17.1 R158Q R408W SEV SEV 111 95 109 99 101 99 105 110 93
E-20 6.8 15.0 16.5 N 40.9 1.92 40.9 10.1 27.3 18.4       . 118 99 92 86 104 92 82 85 79
L-10 7.9 14.0 18.0 N 26.3 0.83 26.3 5.5 21.8 22.4 Y277D Y204C .M LD SEV 113 111 115 116 108 114 109 106 110
N-09 7.9 X X N 25.7 0.92 25.7 14.0 23.4 . L15/S 16FS DELCT E221 D222 FSDELAG SEV SEV 106 . 105 88 89 87 103 106 93
L-07 8.0 27.0 X Y 19.6 . 19.6 13.0 17.3 25.1 F299C R408W SEV SEV 100 115 112 119 126 126 112 104 108
D-26 10.0 X X ? 19.8 . 19.8 12.3 20.5 . R408W R408W SEV SEV 102 107 103 97 96 97 . . .
Q-04 10.0 26.0 X Y 3.8 . 3.8 5.3 11.3 7.9 IVS1 2NT1G>A ? SEV . 124 103 110 102 118 108 105 108 98
R-03 10.0 X X N 26.4 . 26.4 10.1 26.0 26.4   . . . 75 67 68 79 72 54 55 53
F-02 12.0 X X N 21.0 . 21.0 20.6 21.7 20.4 I65T R408W MOD SEV 115 83 79 86 78 80 97 104 93
I-17 12.0 X X Y 32.5 1.07 32.5 8.2 6.0 26.2 L213P R408W ? SEV 114 . . 104 142 124 107 95 96
A-13 12.0 X X N 37.5 0.87 37.5 10.9 16.6 25.1 I65T A246 FSDELC MOD SEV 103 88 . 81 81 79 84 85 93

12.6 - 20.0 year

C A S E A G E D D C A G E D R S AGEDC2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
L-03 13.7 X X N 19.8 0.80 19.8 13.4 16.6 19.8 Y277D R408W MLD   SEV 101 107 97 103 108 105 . .
E-17 14.0 28.0 X Y 6.0 . 6.0 7.7 5.8 8.2 R261Q IVS1 0NT-11G>A MOD SEV 132 105 107 96 113 102 101 100 105
L-36 14.0 21.0 21.0 Y 17.4 1.59 17.4 13.3 14.6 16.0 R408W R408W SEV SEV 100 86 90 97 110 102 103 108 96
T-05 14.5 X X N 29.1 0.96 29.1 12.4 19.2 . G272X R408W SEV SEV 118 101 . 103 93 98 114 112 105
K-09 15.0 X X N 19.9 0.72 19.9 8.2 11.3 13.0 L48S IVS10 NT-11G>A MLD SEV 108 109 . 95 98 96 94 104 89
N-03 15.0 30.0 X Y 13.5 0.62 24.0 23.7 24.0 . I65T Y414X MOD SEV 87 . 62 72 74 72 44 44 44
F-10 16.5 24.0 28.0 Y 1.4 0.94 15.0 11.9 16.4 13.2 I65T IVS7 NT1G>A MOD SEV 121 130 117 129 138 136 114 108 112

Back to Appendix B Figures and Tables

C A S E A G E D D C A G E D R S AGEDC2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
A-10 17.0 24.0 28.0 N 15.2 0.38 15.2 5.0 6.3 12.4 F39L IVS12 NT1G>A MOD SEV 111 112 102 94 110 100 . . .
D-22 17.0 X X N 17.0 . 17.0 14.3 15.4 . I65T IVS12 nt1g>a MOD SEV 104 109 96 88 99 91 . . .
L-35 18.0 X X N 27.9 0.60 27.9 13.5 12.4 21.3 E280K DELE 2/IVS2NT1 SEV SEV 75 83 85 88 81 83 . . .
I-16 20.0 24.0 24.0 N 28.3 0.71 28.3 7.0 14.0 16.0 G272X R408W SEV SEV 114 . 110 101 98 99 103 102 103

Never discontinued

C A S E A G E D D C A G E D R S AGEDC2 C U R R M F C U R R P H E C U R R T Y R U S U A L P H E I D C A 1 2 I D C B 8 C ID C F U M U 1 M U 2 M C L A S S 1 M C L A S S 2 PAR F WI S C 1 0 F W I S C 1 2F VIQ FU P I Q F U FI Q F U R EA D F U S P E LL F U A R I T H F U
F-07 X X X Y 15.3 . 15.3 9.7 10.0 14.0 I65T R408W MOD SEV 109 104 95 104 107 106 105 108 100
L-30 X X X Y 19.6 1.03 19.6 6.8 13.7 17.6 IVS10 NT-11G>A I65T SEV MOD 113 105 97 105 102 103 103 102 93
L-22 X X X Y 14.9 1.38 14.9 13.1 12.6 13.5 IVS1 2NT1G>A R261Q SEV MOD 109 95 96 114 98 113 114 110 96
I-12 X X X Y 19.1 1.56 19.1 10.2 10.0 16.1 R408W IVS1 2NT1G>A SEV SEV 113 101 97 94 102 97 97 106 89
L-18 X X X Y 22.6 0.56 22.6 8.2 11.9 16.8 IVS1 2NT1G>A IVS1 2NT1G>A SEV SEV 100 117 105 128 108 123 105 106 104
A-08 X X X Y 12.2 1.67 12.2 12.7 3.2 . R408W R408W SEV SEV 122 113 115 109 114 112 114 119 105
F-01 X X X Y 5.0 . 5.0 4.4 13.1 8.3 IVS1 NT5G>T IVS1 2NT1G>A SEV SEV 113 102 89 103 92 99 109 110 98

Back to Appendix B Figures and Tables

first | previous | next | last

Last Updated Date: 07/20/2009
Last Reviewed Date: 07/20/2009
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology