ref_seq pah
TRANSCRIPT
8/9/2019 ref_seq pAH
http://slidepdf.com/reader/full/refseq-pah 1/7
PAH cDNA Sequence Compiled by S.Byck, P.M.Nowacki, and Max Caccione.
This Reference Sequence (simplified) is deposited in GenBank: U49897.
This sequence is derived from the following:Partial 5'UTR sequence, Konecki et al., 1992.
Exon sequences, Kwok et al., 1985.
Partial Intron sequences, Svensson (thesis) and others.
Other DiLella 1986, Kwok (1992).
Polymorphisms are indicated in color above the reference sequence where available.
Polymorphisms were obtained from the following sources:
red from Gulberg primer sequence.
purple from Kalaydjieva et al., 1996.
blue from DiLella intron data.
dark green from Abadie et al., 1989.light blue from Woo primer sequence.
olive green from Svensson 5'UTR sequence.
NOTE:Where a nucleotide is inserted, the reference and inserted nucleotides are written above the reference.
Where a nucleotide is deleted, 'del' is written above the reference nucleotide
This document is color coded, the color version is in MS Excel format and is available at http://data.mch.mcgill.ca/pahdb_new/pahdb_sequence.html
Pvu II GC
C A G C T G G G G G T A A G G G G G G
- 4 7 2
- 4 7 1
- 4 7 0
- 4 6 9
- 4 6 8
- 4 6 7
- 4 6 6
- 4 6 5
- 4 6 4
- 4 6 3
- 4 6 2
- 4 6 1
- 4 6 0
- 4 5 9
- 4 5 8
- 4 5 7
- 4 5 6
- 4 5 5
- 4 5 4
Gre
C G G A T T A T T C A T A T A A T T G T T A T A C C A G A C G G T C G C
- 4 5 3
- 4 5 2
- 4 5 1
- 4 5 0
- 4 4 9
- 4 4 8
- 4 4 7
- 4 4 6
- 4 4 5
- 4 4 4
- 4 4 3
- 4 4 2
- 4 4 1
- 4 4 0
- 4 3 9
- 4 3 8
- 4 3 7
- 4 3 6
- 4 3 5
- 4 3 4
- 4 3 3
- 4 3 2
- 4 3 1
- 4 3 0
- 4 2 9
- 4 2 8
- 4 2 7
- 4 2 6
- 4 2 5
- 4 2 4
- 4 2 3
- 4 2 2
- 4 2 1
- 4 2 0
- 4 1 9
- 4 1 8
CAAT Gre Ap-2 A G G C T T A G T C C A A T T G C A G A G A A C T C G C T T C C C A G G
- 4 1 7
- 4 1 6
- 4 1 5
- 4 1 4
- 4 1 3
- 4 1 2
- 4 1 1
- 4 1 0
- 4 0 9
- 4 0 8
- 4 0 7
- 4 0 6
- 4 0 5
- 4 0 4
- 4 0 3
- 4 0 2
- 4 0 1
- 4 0 0
- 3 9 9
- 3 9 8
- 3 9 7
- 3 9 6
- 3 9 5
- 3 9 4
- 3 9 3
- 3 9 2
- 3 9 1
- 3 9 0
- 3 8 9
- 3 8 8
- 3 8 7
- 3 8 6
- 3 8 5
- 3 8 4
- 3 8 3
- 3 8 2
C T T C T G A G A G T C C C G G A A G T G C C T A A A C C T G T C T A A
- 3 8 1
- 3 8 0
- 3 7 9
- 3 7 8
- 3 7 7
- 3 7 6
- 3 7 5
- 3 7 4
- 3 7 3
- 3 7 2
- 3 7 1
- 3 7 0
- 3 6 9
- 3 6 8
- 3 6 7
- 3 6 6
- 3 6 5
- 3 6 4
- 3 6 3
- 3 6 2
- 3 6 1
- 3 6 0
- 3 5 9
- 3 5 8
- 3 5 7
- 3 5 6
- 3 5 5
- 3 5 4
- 3 5 3
- 3 5 2
- 3 5 1
- 3 5 0
- 3 4 9
- 3 4 8
- 3 4 7
- 3 4 6
CACCC Ap-2
T C G A C G G G G C T T G G G T G G C C C G T C G C T C C C T G G C T T
- 3 4 5
- 3 4 4
- 3 4 3
- 3 4 2
- 3 4 1
- 3 4 0
- 3 3 9
- 3 3 8
- 3 3 7
- 3 3 6
- 3 3 5
- 3 3 4
- 3 3 3
- 3 3 2
- 3 3 1
- 3 3 0
- 3 2 9
- 3 2 8
- 3 2 7
- 3 2 6
- 3 2 5
- 3 2 4
- 3 2 3
- 3 2 2
- 3 2 1
- 3 2 0
- 3 1 9
- 3 1 8
- 3 1 7
- 3 1 6
- 3 1 5
- 3 1 4
- 3 1 3
- 3 1 2
- 3 1 1
- 3 1 0
Ap-2 GC
C T T C C C T T T A C C C A G G G C G G G C A G C G A A G T G G T G C C
- 3 0 9
- 3 0 8
- 3 0 7
- 3 0 6
- 3 0 5
- 3 0 4
- 3 0 3
- 3 0 2
- 3 0 1
- 3 0 0
- 2 9 9
- 2 9 8
- 2 9 7
- 2 9 6
- 2 9 5
- 2 9 4
- 2 9 3
- 2 9 2
- 2 9 1
- 2 9 0
- 2 8 9
- 2 8 8
- 2 8 7
- 2 8 6
- 2 8 5
- 2 8 4
- 2 8 3
- 2 8 2
- 2 8 1
- 2 8 0
- 2 7 9
- 2 7 8
- 2 7 7
- 2 7 6
- 2 7 5
- 2 7 4
CACCC
T C C T G C G T C C C C C A C A C C C T C C C T C A G C C C C T C C C C
- 2 7 3
- 2 7 2
- 2 7 1
- 2 7 0
- 2 6 9
- 2 6 8
- 2 6 7
- 2 6 6
- 2 6 5
- 2 6 4
- 2 6 3
- 2 6 2
- 2 6 1
- 2 6 0
- 2 5 9
- 2 5 8
- 2 5 7
- 2 5 6
- 2 5 5
- 2 5 4
- 2 5 3
- 2 5 2
- 2 5 1
- 2 5 0
- 2 4 9
- 2 4 8
- 2 4 7
- 2 4 6
- 2 4 5
- 2 4 4
- 2 4 3
- 2 4 2
- 2 4 1
- 2 4 0
- 2 3 9
- 2 3 8
GC
T C C G G C C C G T C C T G G G C A G G T G A C C T G G A G C A T C C G
- 2 3 7
- 2 3 6
- 2 3 5
- 2 3 4
- 2 3 3
- 2 3 2
- 2 3 1
- 2 3 0
- 2 2 9
- 2 2 8
- 2 2 7
- 2 2 6
- 2 2 5
- 2 2 4
- 2 2 3
- 2 2 2
- 2 2 1
- 2 2 0
- 2 1 9
- 2 1 8
- 2 1 7
- 2 1 6
- 2 1 5
- 2 1 4
- 2 1 3
- 2 1 2
- 2 1 1
- 2 1 0
- 2 0 9
- 2 0 8
- 2 0 7
- 2 0 6
- 2 0 5
- 2 0 4
- 2 0 3
- 2 0 2
Cre
GG G GA
G C A G G C T G C C C T G G C C T C C T G C G T C A G G A C A A G C C C
- 2 0 1
- 2 0 0
- 1 9 9
- 1 9 8
- 1 9 7
- 1 9 6
- 1 9 5
- 1 9 4
- 1 9 3
- 1 9 2
- 1 9 1
- 1 9 0
- 1 8 9
- 1 8 8
- 1 8 7
- 1 8 6
- 1 8 5
- 1 8 4
- 1 8 3
- 1 8 2
- 1 8 1
- 1 8 0
- 1 7 9
- 1 7 8
- 1 7 7
- 1 7 6
- 1 7 5
- 1 7 4
- 1 7 3
- 1 7 2
- 1 7 1
- 1 7 0
- 1 6 9
- 1 6 8
- 1 6 7
- 1 6 6
GC
C T del
A C G A G G G G C G T T A C T G T G C G G A G A T G C A C C A C G C A A
- 1 6 5
- 1 6 4
- 1 6 3
- 1 6 2
- 1 6 1
- 1 6 0
- 1 5 9
- 1 5 8
- 1 5 7
- 1 5 6
- 1 5 5
- 1 5 4
- 1 5 3
- 1 5 2
- 1 5 1
- 1 5 0
- 1 4 9
- 1 4 8
- 1 4 7
- 1 4 6
- 1 4 5
- 1 4 4
- 1 4 3
- 1 4 2
- 1 4 1
- 1 4 0
- 1 3 9
- 1 3 8
- 1 3 7
- 1 3 6
- 1 3 5
- 1 3 4
- 1 3 3
- 1 3 2
- 1 3 1
- 1 3 0
del
G A G A C A C C C T T T G T A A C T C T C T T C T C C T C C C T A G T G
- 1 2 9
- 1 2 8
- 1 2 7
- 1 2 6
- 1 2 5
- 1 2 4
- 1 2 3
- 1 2 2
- 1 2 1
- 1 2 0
- 1 1 9
- 1 1 8
- 1 1 7
- 1 1 6
- 1 1 5
- 1 1 4
- 1 1 3
- 1 1 2
- 1 1 1
- 1 1 0
- 1 0 9
- 1 0 8
- 1 0 7
- 1 0 6
- 1 0 5
- 1 0 4
- 1 0 3
- 1 0 2
- 1 0 1
- 1 0 0
- 9 9
- 9 8
- 9 7
- 9 6
- 9 5
- 9 4
C G A G G T T A A A A C C T T C A G C C C C A C G T G C T G T T T G C A
- 9 3
- 9 2
- 9 1
- 9 0
- 8 9
- 8 8
- 8 7
- 8 6
- 8 5
- 8 4
- 8 3
- 8 2
- 8 1
- 8 0
- 7 9
- 7 8
- 7 7
- 7 6
- 7 5
- 7 4
- 7 3
- 7 2
- 7 1
- 7 0
- 6 9
- 6 8
- 6 7
- 6 6
- 6 5
- 6 4
- 6 3
- 6 2
- 6 1
- 6 0
- 5 9
- 5 8
A A C C T G C C T G T A C C T G A G G C C C T A A A A A G C C A G A G A
- 5 7
- 5 6
- 5 5
- 5 4
- 5 3
- 5 2
- 5 1
- 5 0
- 4 9
- 4 8
- 4 7
- 4 6
- 4 5
- 4 4
- 4 3
- 4 2
- 4 1
- 4 0
- 3 9
- 3 8
- 3 7
- 3 6
- 3 5
- 3 4
- 3 3
- 3 2
- 3 1
- 3 0
- 2 9
- 2 8
- 2 7
- 2 6
- 2 5
- 2 4
- 2 3
- 2 2
START
1 2 3 4 5
M e t S e r T h r A l a V a l
C C T C A C T C C C G G G G A G C C A G C A T G T C C A C T G C G G T C
- 2 1
- 2 0
- 1 9
- 1 8
- 1 7
- 1 6
- 1 5
- 1 4
- 1 3
- 1 2
- 1 1
- 1 0
- 9
- 8
- 7
- 6
- 5
- 4
- 3
- 2
- 1
1 2 3 4 5 6 7 8 9 1 0
1 1
1 2
1 3
1 4
1 5
5'UTR E1
<- ->
6 7 8 9 10 11 12 13 14 15 16 17
L e u G l u A s n P r o G l y L e u G l y A r g L y s L e u S e r A s p
C T G G A A A A C C C A G G C T T G G G C A G G A A A C T C T C T G A C
1 6
1 7
1 8
1 9
2 0
2 1
2 2
2 3
2 4
2 5
2 6
2 7
2 8
2 9
3 0
3 1
3 2
3 3
3 4
3 5
3 6
3 7
3 8
3 9
4 0
4 1
4 2
4 3
4 4
4 5
4 6
4 7
4 8
4 9
5 0
5 1
18 19 20
2.1.1
Copyright 1997, PAH Mutation Analysis Consortium.
8/9/2019 ref_seq pAH
http://slidepdf.com/reader/full/refseq-pah 2/7
P h e G l y G l n
T T T G G A C A G g t g a g c c a c g g c a g c c t g a g c t g c t c a
5 2
5 3
5 4
5 5
5 6
5 7
5 8
5 9
6 0
g t t a g g g g a a t t t g g g c c t c c a g a g a a a g a g a t c c g
a a g a c t g c t g g t g c t t c c t g g t t t c a t a a g c t c a g t
a a g a a g t c t g a a t t c g g a a g g c t g c c t g g c c t c t g c
g t c a g g a c a g c c a g a g g g c g t t a c t g t g c g g a g a t g
c a c a g a a g a g a c a c c t t t g t a c t c t c t c t c t c c t a g
t g c g a g t a a t c a g c c a g t g t c g t t g a a c g t c g t c t a
c t a g g c t a a g a
t t a t g c a a g a t t t a a c t a g a a g a a a
g
g a g t t c a t g c t t g c t t t g t c c a t g g a g g t t t a a c a g
g a a t g a a t t g c t a a a c t g t g g a a a a t g t t t t a a a c a
21 22 23 24 25 26
G l u T h r S e r T y r I l e G l
a a t g c a t c t t a t c c t g t a g G A A A C A A G C T A T A T T G A
6 1
6 2
6 3
6 4
6 5
6 6
6 7
6 8
6 9
7 0
7 1
7 2
7 3
7 4
7 5
7 6
7 7
E2
27 28 29 30 31 32 33 34 35 36 37 38
u A s p A s n C y s A s n G l n A s n G l y A l a I l e S e r L e u I l
A G A C A A C T G C A A T C A A A A T G G T G C C A T A T C A C T G A T
7 8
7 9
8 0
8 1
8 2
8 3
8 4
8 5
8 6
8 7
8 8
8 9
9 0
9 1
9 2
9 3
9 4
9 5
9 6
9 7
9 8
9 9
1 0 0
1 0 1
1 0 2
1 0 3
1 0 4
1 0 5
1 0 6
1 0 7
1 0 8
1 0 9
1 1 0
1 1 1
1 1 2
1 1 3
39 40 41 42 43 44 45 46 47 48 49 50
e P h e S e r L e u L y s G l u G l u V a l G l y A l a L e u A l a L y
C T T C T C A C T C A A A G A A G A A G T T G G T G C A T T G G C C A A
1 1 4
1 1 5
1 1 6
1 1 7
1 1 8
1 1 9
1 2 0
1 2 1
1 2 2
1 2 3
1 2 4
1 2 5
1 2 6
1 2 7
1 2 8
1 2 9
1 3 0
1 3 1
1 3 2
1 3 3
1 3 4
1 3 5
1 3 6
1 3 7
1 3 8
1 3 9
1 4 0
1 4 1
1 4 2
1 4 3
1 4 4
1 4 5
1 4 6
1 4 7
1 4 8
1 4 9
51 52 53 54 55 56
s V a l L e u A r g L e u P h e G l u a
A G T A T T G C G C T T A T T T G A G g t c a g t g c t a c a a t c a t
1 5 0
1 5 1
1 5 2
1 5 3
1 5 4
1 5 5
1 5 6
1 5 7
1 5 8
1 5 9
1 6 0
1 6 1
1 6 2
1 6 3
1 6 4
1 6 5
1 6 6
1 6 7
1 6 8
g t t t g t c t t g g a t a a t g t c g t a g c a a a c t t c c a t g t
t c t t t t c t a g t t a g a t g c a a t g a a a a g a a c a c a g g a
t c t g g a a c a g g
c t g a a c t c t c c a t t t g t t g c g t t a g
g t t t t c c t g t t c t g g t t c t g c a t c t t t g g c c t g c g t
t a g t t c c t g t g a c t g t c t c c t c a c c c t c c c c a t t c t
57 58 59 60 61 62 63 64 65
t G l u A s n A s p V a l A s n L e u T h r H i s I l e
c t c g t c t a g G A G A A T G A T G T A A A C C T G A C C C A C A T T
1 6 9
1 7 0
1 7 1
1 7 2
1 7 3
1 7 4
1 7 5
1 7 6
1 7 7
1 7 8
1 7 9
1 8 0
1 8 1
1 8 2
1 8 3
1 8 4
1 8 5
1 8 6
1 8 7
1 8 8
1 8 9
1 9 0
1 9 1
1 9 2
1 9 3
1 9 4
1 9 5
E3
66 67 68 69 70 71 72 73 74 75 76 77
G l u S e r A r g P r o S e r A r g L e u L y s L y s A s p G l u T y r
G A A T C T A G A C C T T C T C G T T T A A A G A A A G A T G A G T A T
1 9 6
1 9 7
1 9 8
1 9 9
2 0 0
2 0 1
2 0 2
2 0 3
2 0 4
2 0 5
2 0 6
2 0 7
2 0 8
2 0 9
2 1 0
2 1 1
2 1 2
2 1 3
2 1 4
2 1 5
2 1 6
2 1 7
2 1 8
2 1 9
2 2 0
2 2 1
2 2 2
2 2 3
2 2 4
2 2 5
2 2 6
2 2 7
2 2 8
2 2 9
2 3 0
2 3 1
78 79 80 81 82 83 84 85 86 87 88 89
G l u P h e P h e T h r H i s L e u A s p L y s A r g S e r L e u P r o
G A A T T T T T C A C C C A T T T G G A T A A A C G T A G C C T G C C T
2 3 2
2 3 3
2 3 4
2 3 5
2 3 6
2 3 7
2 3 8
2 3 9
2 4 0
2 4 1
2 4 2
2 4 3
2 4 4
2 4 5
2 4 6
2 4 7
2 4 8
2 4 9
2 5 0
2 5 1
2 5 2
2 5 3
2 5 4
2 5 5
2 5 6
2 5 7
2 5 8
2 5 9
2 6 0
2 6 1
2 6 2
2 6 3
2 6 4
2 6 5
2 6 6
2 6 7
90 91 92 93 94 95 96 97 98 99 100 101
A l a L e u T h r A s n I l e I l e L y s I l e L e u A r g H i s A s p
G C T C T G A C A A A C A T C A T C A A G A T C T T G A G G C A T G A C
2 6 8
2 6 9
2 7 0
2 7 1
2 7 2
2 7 3
2 7 4
2 7 5
2 7 6
2 7 7
2 7 8
2 7 9
2 8 0
2 8 1
2 8 2
2 8 3
2 8 4
2 8 5
2 8 6
2 8 7
2 8 8
2 8 9
2 9 0
2 9 1
2 9 2
2 9 3
2 9 4
2 9 5
2 9 6
2 9 7
2 9 8
2 9 9
3 0 0
3 0 1
3 0 2
3 0 3
102 103 104 105 106 107 108 109 110 111 112 113
I l e G l y A l a T h r V a l H i s G l u L e u S e r A r g A s p L y s
A T T G G T G C C A C T G T C C A T G A G C T T T C A C G A G A T A A G
3 0 4
3 0 5
3 0 6
3 0 7
3 0 8
3 0 9
3 1 0
3 1 1
3 1 2
3 1 3
3 1 4
3 1 5
3 1 6
3 1 7
3 1 8
3 1 9
3 2 0
3 2 1
3 2 2
3 2 3
3 2 4
3 2 5
3 2 6
3 2 7
3 2 8
3 2 9
3 3 0
3 3 1
3 3 2
3 3 3
3 3 4
3 3 5
3 3 6
3 3 7
3 3 8
3 3 9
114 115 116 117 118
L y s L y s A s p T h r V (a l)
A A G A A A G A C A C A G g t a a g a a t t a g a g g a a t t t t g c a
3 4 0
3 4 1
3 4 2
3 4 3
3 4 4
3 4 5
3 4 6
3 4 7
3 4 8
3 4 9
3 5 0
3 5 1
3 5 2
Copyright 1997, PAH Mutation Analysis Consortium.
8/9/2019 ref_seq pAH
http://slidepdf.com/reader/full/refseq-pah 3/7
a c a t a a g t a a c t c a c a t g t c t t a t a
a t g t t c t g c c a a
118
V a
t c t g t a c t c a g g a c g t t g c c t t c t c t g t g t t t c a g T
3 5 3
E4
119 120 121 122 123 124 125 126 127 128 129 130
l P r o T r p P h e P r o A r g T h r I l e G l n G l u L e u A s p A r
G C C C T G G T T C C C A A G A A C C A T T C A A G A G C T G G A C A G
3 5 4
3 5 5
3 5 6
3 5 7
3 5 8
3 5 9
3 6 0
3 6 1
3 6 2
3 6 3
3 6 4
3 6 5
3 6 6
3 6 7
3 6 8
3 6 9
3 7 0
3 7 1
3 7 2
3 7 3
3 7 4
3 7 5
3 7 6
3 7 7
3 7 8
3 7 9
3 8 0
3 8 1
3 8 2
3 8 3
3 8 4
3 8 5
3 8 6
3 8 7
3 8 8
3 8 9
131 132 133 134 135 136 137 138 139 140 141 142
g P h e A l a A s n G l n I l e L e u S e r T y r G l y A l a G l u L e
A T T T G C C A A T C A G A T T C T C A G C T A T G G A G C G G A A C T
3 9 0
3 9 1
3 9 2
3 9 3
3 9 4
3 9 5
3 9 6
3 9 7
3 9 8
3 9 9
4 0 0
4 0 1
4 0 2
4 0 3
4 0 4
4 0 5
4 0 6
4 0 7
4 0 8
4 0 9
4 1 0
4 1 1
4 1 2
4 1 3
4 1 4
4 1 5
4 1 6
4 1 7
4 1 8
4 1 9
4 2 0
4 2 1
4 2 2
4 2 3
4 2 4
4 2 5
143 144 145 146 147
u A s p A l a A s p H i s P r o t g t c
G G A T G C T G A C C A C C C T g t g a g t c c a t g g c c c g t a g a
4 2 6
4 2 7
4 2 8
4 2 9
4 3 0
4 3 1
4 3 2
4 3 3
4 3 4
4 3 5
4 3 6
4 3 7
4 3 8
4 3 9
4 4 0
4 4 1
t g
t g a g a t t t t t t g a c a
a a t c c a c a g c g a g g a g g c t c a
a g g t a a a t c a g g g a a g t t a c t a a t a a g g t g t c a c t t
a c a a t a t c t g g t a g g a g a g c t a a g t t t a a c c c g a g a
c t t t a g t t t t a g g g t a t a c c c a a g g g a a g g a g a g a t
g c a c t g t c a t g g c t t t a g a g c c c c c a t t c a a a g c a t
t c a t a a a g g t a c c a g a c c t c t t c c t a t g a a g c c t t g
148 149 150
G l y P h e L y s
a a a a a t c a g g t g t c t c t t t t c t c c t a g G G T T T T A A A
4 4 2
4 4 3
4 4 4
4 4 5
4 4 6
4 4 7
4 4 8
4 4 9
4 5 0
E5
151 152 153 154 155 156 157 158 159 160 161 162
A s p P r o V a l T y r A r g A l a A r g A r g L y s G l n P h e A l a
G A T C C T G T G T A C C G T G C A A G A C G G A A G C A G T T T G C T
4 5 1
4 5 2
4 5 3
4 5 4
4 5 5
4 5 6
4 5 7
4 5 8
4 5 9
4 6 0
4 6 1
4 6 2
4 6 3
4 6 4
4 6 5
4 6 6
4 6 7
4 6 8
4 6 9
4 7 0
4 7 1
4 7 2
4 7 3
4 7 4
4 7 5
4 7 6
4 7 7
4 7 8
4 7 9
4 8 0
4 8 1
4 8 2
4 8 3
4 8 4
4 8 5
4 8 6
163 164 165 166 167 168 169 170
A s p I l e A l a T y r A s n T y r A r g H i (s)
G A C A T T G C C T A C A A C T A C C G C C A g t a a g t c t g c c t t
4 8 7
4 8 8
4 8 9
4 9 0
4 9 1
4 9 2
4 9 3
4 9 4
4 9 5
4 9 6
4 9 7
4 9 8
4 9 9
5 0 0
5 0 1
5 0 2
5 0 3
5 0 4
5 0 5
5 0 6
5 0 7
5 0 8
5 0 9
g c t t g t t g a g g g g a a g a g a g a a a a a c a c a c c c c t a g
del
c c t g c t t c t c c c t t g c c c t c a t c c a g t t g a g g a t g g
a a a a t a c c a g c a t g a a g a g t a a t c t t g c a c g c c c t c
g c t c a a g c c t t c g t c a c t g g t c c c g c c a c c a a a c g t
t t c g g c g a g a a g c a g g c c a t t a t c g c c g g c a t g g c g
g c c g a c g c g c t g g g c t a c t t c t t g c t g c g t t c c g a c
g c g a g g c t g g a t g g c c t t c c c c a t t a t g a t t a
g a a t
t t t c t c t t c a a a t a a t g g t a g t a a a t t c a c t g t a g c
a a g t g a t g g c a g c t c a c a g g t t c t g g t c c c c g a c t c
c c t c t g c t a a c c t a a c c t g c a t t c t g c t g t g c c c c t
del ga tt
g c c c t g c c t t g a g c a c c t a t t t t g t g c c t g t a t t c t
170 171 172 173 174 175 176 177 178 179 180 181
(H i) s G l y G l n P r o I l e P r o A r g V a l G l u T y r M e t G l u
a g T G G G C A G C C C A T C C C T C G A G T G G A A T A C A T G G A G
5 1 0
5 1 1
5 1 2
5 1 3
5 1 4
5 1 5
5 1 6
5 1 7
5 1 8
5 1 9
5 2 0
5 2 1
5 2 2
5 2 3
5 2 4
5 2 5
5 2 6
5 2 7
5 2 8
5 2 9
5 3 0
5 3 1
5 3 2
5 3 3
5 3 4
5 3 5
5 3 6
5 3 7
5 3 8
5 3 9
5 4 0
5 4 1
5 4 2
5 4 3
E6
182 183 184 185 186 187 188 189 190 191 192 193
G l u G l u L y s L y s T h r T r p G l y T h r V a l P h e L y s T h r
G A A G A A A A G A A A A C A T G G G G C A C A G T G T T C A A G A C T
5 4 4
5 4 5
5 4 6
5 4 7
5 4 8
5 4 9
5 5 0
5 5 1
5 5 2
5 5 3
5 5 4
5 5 5
5 5 6
5 5 7
5 5 8
5 5 9
5 6 0
5 6 1
5 6 2
5 6 3
5 6 4
5 6 5
5 6 6
5 6 7
5 6 8
5 6 9
5 7 0
5 7 1
5 7 2
5 7 3
5 7 4
5 7 5
5 7 6
5 7 7
5 7 8
5 7 9
194 195 196 197 198 199 200 201 202 203 204 205
L e u L y s S e r L e u T y r L y s T h r H i s A l a C y s T y r G l u
C T G A A G T C C T T G T A T A A A A C C C A T G C T T G C T A T G A G
5 8 0
5 8 1
5 8 2
5 8 3
5 8 4
5 8 5
5 8 6
5 8 7
5 8 8
5 8 9
5 9 0
5 9 1
5 9 2
5 9 3
5 9 4
5 9 5
5 9 6
5 9 7
5 9 8
5 9 9
6 0 0
6 0 1
6 0 2
6 0 3
6 0 4
6 0 5
6 0 6
6 0 7
6 0 8
6 0 9
6 1 0
6 1 1
6 1 2
6 1 3
6 1 4
6 1 5
206 207 208 209 210 211 212 213 214 215 216 217
T y r A s n H i s I l e P h e P r o L e u L e u G l u L y s T y r C y s
T A C A A T C A C A T T T T T C C A C T T C T T G A A A A G T A C T G TCopyright 1997, PAH Mutation Analysis Consortium.
8/9/2019 ref_seq pAH
http://slidepdf.com/reader/full/refseq-pah 4/7
6 1 6
6 1 7
6 1 8
6 1 9
6 2 0
6 2 1
6 2 2
6 2 3
6 2 4
6 2 5
6 2 6
6 2 7
6 2 8
6 2 9
6 3 0
6 3 1
6 3 2
6 3 3
6 3 4
6 3 5
6 3 6
6 3 7
6 3 8
6 3 9
6 4 0
6 4 1
6 4 2
6 4 3
6 4 4
6 4 5
6 4 6
6 4 7
6 4 8
6 4 9
6 5 0
6 5 1
218 219 220 221 222 223 224 225 226 227 228 229
G l y P h e H i s G l u A s p A s n I l e P r o G l n L e u G l u A s p
G G C T T C C A T G A A G A T A A C A T T C C C C A G C T G G A A G A C
6 5 2
6 5 3
6 5 4
6 5 5
6 5 6
6 5 7
6 5 8
6 5 9
6 6 0
6 6 1
6 6 2
6 6 3
6 6 4
6 6 5
6 6 6
6 6 7
6 6 8
6 6 9
6 7 0
6 7 1
6 7 2
6 7 3
6 7 4
6 7 5
6 7 6
6 7 7
6 7 8
6 7 9
6 8 0
6 8 1
6 8 2
6 8 3
6 8 4
6 8 5
6 8 6
6 8 7
230 231 232 233 234 235 236
V a l S e r G l n P h e L e u G l n T (h r)
G T T T C T C A A T T C C T G C A G A g t a a g t c c a c a t c a g g g
6 8 8
6 8 9
6 9 0
6 9 1
6 9 2
6 9 3
6 9 4
6 9 5
6 9 6
6 9 7
6 9 8
6 9 9
7 0 0
7 0 1
7 0 2
7 0 3
7 0 4
7 0 5
7 0 6
gg gc del
t c a a t g c c c t g a g a a a g t t g g g g g a g g a t t g a g g c a
g a g g a g a g g g a a
t t a t g t g a c t a c t c c a c t a c c a a a g
gc
g t c t c c t a g t g c c t c t g a c t g a g t g g t g a t g a g c t t
236 237 238
t (T) h r C y s T h r
t g a g t t t t c t t t c t t c t t t t c a t c c c a g C T T G C A C T
7 0 7
7 0 8
7 0 9
7 1 0
7 1 1
7 1 2
7 1 3
7 1 4
E7
239 240 241 242 243 244 245 246 247 248 249 250
G l y P h e A r g L e u A r g P r o V a l A l a G l y L e u L e u S e r
G G T T T C C G C C T C C G A C C T G T G G C T G G C C T G C T T T C C
7 1 5
7 1 6
7 1 7
7 1 8
7 1 9
7 2 0
7 2 1
7 2 2
7 2 3
7 2 4
7 2 5
7 2 6
7 2 7
7 2 8
7 2 9
7 3 0
7 3 1
7 3 2
7 3 3
7 3 4
7 3 5
7 3 6
7 3 7
7 3 8
7 3 9
7 4 0
7 4 1
7 4 2
7 4 3
7 4 4
7 4 5
7 4 6
7 4 7
7 4 8
7 4 9
7 5 0
251 252 253 254 255 256 257 258 259 260 261 262
S e r A r g A s p P h e L e u G l y G l y L e u A l a P h e A r g V a l
T C T C G G G A T T T C T T G G G T G G C C T G G C C T T C C G A G T C
7 5 1
7 5 2
7 5 3
7 5 4
7 5 5
7 5 6
7 5 7
7 5 8
7 5 9
7 6 0
7 6 1
7 6 2
7 6 3
7 6 4
7 6 5
7 6 6
7 6 7
7 6 8
7 6 9
7 7 0
7 7 1
7 7 2
7 7 3
7 7 4
7 7 5
7 7 6
7 7 7
7 7 8
7 7 9
7 8 0
7 8 1
7 8 2
7 8 3
7 8 4
7 8 5
7 8 6
263 264 265 266 267 268 269 270 271 272 273 274
P h e H i s C y s T h r G l n T y r I l e A r g H i s G l y S e r L y s
T T C C A C T G C A C A C A G T A C A T C A G A C A T G G A T C C A A G
7 8 7
7 8 8
7 8 9
7 9 0
7 9 1
7 9 2
7 9 3
7 9 4
7 9 5
7 9 6
7 9 7
7 9 8
7 9 9
8 0 0
8 0 1
8 0 2
8 0 3
8 0 4
8 0 5
8 0 6
8 0 7
8 0 8
8 0 9
8 1 0
8 1 1
8 1 2
8 1 3
8 1 4
8 1 5
8 1 6
8 1 7
8 1 8
8 1 9
8 2 0
8 2 1
8 2 2
275 276 277 278 279 280 281
P r o M e t T y r T h r P r o G l u P r (o)
C C C A T G T A T A C C C C C G A A C C g t g a g t a c t g t c c t c c
8 2 3
8 2 4
8 2 5
8 2 6
8 2 7
8 2 8
8 2 9
8 3 0
8 3 1
8 3 2
8 3 3
8 3 4
8 3 5
8 3 6
8 3 7
8 3 8
8 3 9
8 4 0
8 4 1
8 4 2
c t
a g c t a c c a g t t g c c a g g c a c a a t g a g c g c c a t c t t t
t
t c c t g c t g c a a g a a t g a g g t t t g g g t t c a g t t g c t g
g c t g g t c c a c a g g c t a g t t g t g t a g a c t g t t t g c t c
g t a g t a c t a a g a a c a t t c a t c t a t t c t g a g t t t g c t
c a t c a g a g a g c a g
c a t t c t t t c t g c c c a t t c c t c a t
g t a g a a a g a c t g a g t c t g g c t t g g c t t a a a c c t c c t
281 282
(P r) r A
c c c c t c c g a g c t c t c t g t g c t t t c t g t c t t t c a g T G
8 4 3
8 4 4
E8
283 284 285 286 287 288 289 290 291 292 293 294
s p I l e C y s H i s G l u L e u L e u G l y H i s V a l P r o L e u P
A C A T C T G C C A T G A G C T G T T G G G A C A T G T G C C C T T G T
8 4 5
8 4 6
8 4 7
8 4 8
8 4 9
8 5 0
8 5 1
8 5 2
8 5 3
8 5 4
8 5 5
8 5 6
8 5 7
8 5 8
8 5 9
8 6 0
8 6 1
8 6 2
8 6 3
8 6 4
8 6 5
8 6 6
8 6 7
8 6 8
8 6 9
8 7 0
8 7 1
8 7 2
8 7 3
8 7 4
8 7 5
8 7 6
8 7 7
8 7 8
8 7 9
8 8 0
295 296 297 298 299 300 301 302 303 304
h e S e r A s p A r g S e r P h e A l a G l n P h e S e r G l n
T T T C A G A T C G C A G C T T T G C C C A G T T T T C C C A G g t a a
8 8
1
8 8
2
8 8
3
8 8
4
8 8
5
8 8
6
8 8
7
8 8
8
8 8
9
8 9
0
8 9
1
8 9
2
8 9
3
8 9
4
8 9
5
8 9
6
8 9
7
8 9
8
8 9
9
9 0
0
9 0
1
9 0
2
9 0
3
9 0
4
9 0
5
9 0
6
9 0
7
9 0
8
9 0
9
9 1
0
9 1
1
9 1
2
g g a a t g g a t t t t t t a g c c t t c t a g t t a t a g g t c t g t
g a c c t g a a t t t c t c a a a t g a g t t g a g c c c a g g g a g g
g g t c c t c a t g c c c t c t g c a a g a g c g g a a a c c a g g t a
c a g t t c t a t g a t c c c a c c t a a a t g g g t g t g t g g t t c
t g g g a a g c t a a a t a c c c a t t t g g a g a t c a a g c a t g g
g g t t g g t g a a t c a c t c a t c c t c t g a a g a c t g g t a t t
g g t g a a t c a c t c a t c c t c t g a a t c a t a t g t g t g t t c
t t c t a c g t g a c t a a t c t c a t t t t t c c t g c t g a g a c c
Copyright 1997, PAH Mutation Analysis Consortium.
8/9/2019 ref_seq pAH
http://slidepdf.com/reader/full/refseq-pah 5/7
t t t a c t a c c t g a a g c c t c c t g a t t a g t
t c t g t g a t t
c t a t a a c a t a t g g g c a g g a a a g a c t t g a t a a c a c a c
t c a g g g t c t a t g t g g g c t g t t c t g a a g g c a t c t g g c
c a c c c a t c a c c t t t t t a t g g c c a a g t a c t a g g t t g g
t t c t g t g g t t c c a a t t a c a g g a a c a g a a c a g g t t c t
305 306 307 308 309 310
G l u I l e G l y L e u A l a S e r
a t t t t c c c c c a a t t a c a g G A A A T T G G C C T T G C C T C T
9 1 3
9 1 4
9 1 5
9 1 6
9 1 7
9 1 8
9 1 9
9 2 0
9 2 1
9 2 2
9 2 3
9 2 4
9 2 5
9 2 6
9 2 7
9 2 8
9 2 9
9 3 0
E9
311 312 313 314 315 316 317 318 319 320 321 322
L e u G l y A l a P r o A s p G l u T y r I l e G l u L y s L e u A l a
C T G G G T G C A C C T G A T G A A T A C A T T G A A A A G C T C G C C
9 3 1
9 3 2
9 3 3
9 3 4
9 3 5
9 3 6
9 3 7
9 3 8
9 3 9
9 4 0
9 4 1
9 4 2
9 4 3
9 4 4
9 4 5
9 4 6
9 4 7
9 4 8
9 4 9
9 5 0
9 5 1
9 5 2
9 5 3
9 5 4
9 5 5
9 5 6
9 5 7
9 5 8
9 5 9
9 6 0
9 6 1
9 6 2
9 6 3
9 6 4
9 6 5
9 6 6
323
T h r
A C A g t a a g t c c c t t c t c t c c c t g g g t g g a t g g t g g a
9 6 7
9 6 8
9 6 9
gt
g t g c t a t a g g c t a t g g c c c t c a g g t c t t t g a a a c t c
t c t a c t c c t g g a g c a g g t a t c t g g g a a a a a t a c a g t
g t g t a a c t t c a a g t a
t c a t c c c a g t c a a g g t g a c a c
cg
a t a a a a t t a a c c a t c a t a g a g t g t g c t c t c a g a t t g
324 325 326 327 328 329 330 331
del I l e T y r T r p P h e T h r V a l G l u P
a c t t t c c a t t c c a g A T T T A C T G G T T T A C T G T G G A G T
9 7 0
9 7 1
9 7 2
9 7 3
9 7 4
9 7 5
9 7 6
9 7 7
9 7 8
9 7 9
9 8 0
9 8 1
9 8 2
9 8 3
9 8 4
9 8 5
9 8 6
9 8 7
9 8 8
9 8 9
9 9 0
9 9 1
E10
332 333 334 335 336 337 338 339 340 341 342 343
h e G l y L e u C y s L y s G l n G l y A s p S e r I l e L y s V a l T
T T G G G C T C T G C A A A C A A G G A G A C T C C A T A A A G G C A T
9 9 2
9 9 3
9 9 4
9 9 5
9 9 6
9 9 7
9 9 8
9 9 9
1 0 0 0
1 0 0 1
1 0 0 2
1 0 0 3
1 0 0 4
1 0 0 5
1 0 0 6
1 0 0 7
1 0 0 8
1 0 0 9
1 0 1 0
1 0 1 1
1 0 1 2
1 0 1 3
1 0 1 4
1 0 1 5
1 0 1 6
1 0 1 7
1 0 1 8
1 0 1 9
1 0 2 0
1 0 2 1
1 0 2 2
1 0 2 3
1 0 2 4
1 0 2 5
1 0 2 6
1 0 2 7
344 345 346 347 348 349 350 351 352 353 354 355
y r G l y A l a G l y L e u L e u S e r S e r P h e G l y G l u L e u G
A T G G T G C T G G G C T C C T G T C A T C C T T T G G T G A A T T A C
1 0 2 8
1 0 2 9
1 0 3 0
1 0 3 1
1 0 3 2
1 0 3 3
1 0 3 4
1 0 3 5
1 0 3 6
1 0 3 7
1 0 3 8
1 0 3 9
1 0 4 0
1 0 4 1
1 0 4 2
1 0 4 3
1 0 4 4
1 0 4 5
1 0 4 6
1 0 4 7
1 0 4 8
1 0 4 9
1 0 5 0
1 0 5 1
1 0 5 2
1 0 5 3
1 0 5 4
1 0 5 5
1 0 5 6
1 0 5 7
1 0 5 8
1 0 5 9
1 0 6 0
1 0 6 1
1 0 6 2
1 0 6 3
l n
A G g t a t g a c c t t c a c a g g a a c c a a g g a t a g a t t t a a
1 0 6 4
1 0 6 5
a a g t g g t g g g t a c a g a a a a c c a t t a t t g t g c t t t c a
a t a t t g t t g a a a c c c t a t t t g t a t c c g t t t t g a t a t
g c a a c c t g g g a a c t c a t t c t c c a g t g a a t t
c t c c c t
t g g c t g t a g t t t t a g a t a g g c t a t a a g g t a g a a c c t
a t a t g t g c a a a t a a t t t g g c t c a c a g c a t t t g g g a c
t g t g g t g t a g a a g g a a t c g g g t t g a g a t g a g a g a a g
g g g c a c a a a t g g c c t a t g g g a t g c a g c a g g g a a t a c
t g a t c c t g a t t t a a c a g t g a t a a t a a c t t t t c a c t t
356 357 358 359 360 361 362 363 364
a T y r C y s .L e u S e r G l u L y s P r o L y s L
g g g g c c t a c a g T A C T G C T T A T C A G A G A A G C C A A A G C
1 0 6 6
1 0 6 7
1 0 6 8
1 0 6 9
1 0 7 0
1 0 7 1
1 0 7 2
1 0 7 3
1 0 7 4
1 0 7 5
1 0 7 6
1 0 7 7
1 0 7 8
1 0 7 9
1 0 8 0
1 0 8 1
1 0 8 2
1 0 8 3
1 0 8 4
1 0 8 5
1 0 8 6
1 0 8 7
1 0 8 8
1 0 8 9
1 0 9 0
E11
365 366 367 368 369 370 371 372 373 374 375 376
e u L e u P r o L e u G l u L e u G l u L y s T h r A l a I l e T l n A
T T C T C C C C C T G G A G C T G G A G A A G A C A G C C A T C C A A A
1 0 9 1
1 0 9 2
1 0 9 3
1 0 9 4
1 0 9 5
1 0 9 6
1 0 9 7
1 0 9 8
1 0 9 9
1 1 0 0
1 1 0 1
1 1 0 2
1 1 0 3
1 1 0 4
1 1 0 5
1 1 0 6
1 1 0 7
1 1 0 8
1 1 0 9
1 1 1 0
1 1 1 1
1 1 1 2
1 1 1 3
1 1 1 4
1 1 1 5
1 1 1 6
1 1 1 7
1 1 1 8
1 1 1 9
1 1 2 0
1 1 2 1
1 1 2 2
1 1 2 3
1 1 2 4
1 1 2 5
1 1 2 6
377 378 379 380 381 382 383 384 385 386 387 388
s n T y r T h r V a l T h r G l u P h e G l n P r o L e u T y r T y r V
A T T A C A C T G T C A C G G A G T T C C A G C C C C T G T A T T A C G
1 1 2 7
1 1 2 8
1 1 2 9
1 1 3 0
1 1 3 1
1 1 3 2
1 1 3 3
1 1 3 4
1 1 3 5
1 1 3 6
1 1 3 7
1 1 3 8
1 1 3 9
1 1 4 0
1 1 4 1
1 1 4 2
1 1 4 3
1 1 4 4
1 1 4 5
1 1 4 6
1 1 4 7
1 1 4 8
1 1 4 9
1 1 5 0
1 1 5 1
1 1 5 2
1 1 5 3
1 1 5 4
1 1 5 5
1 1 5 6
1 1 5 7
1 1 5 8
1 1 5 9
1 1 6 0
1 1 6 1
1 1 6 2
389 390 391 392 393 394 395 396 397 398 399 400
a l A l a G l u S e r P h e A s n A s p A l a L y s G l u L y s V a l ACopyright 1997, PAH Mutation Analysis Consortium.
8/9/2019 ref_seq pAH
http://slidepdf.com/reader/full/refseq-pah 6/7
T G G C A G A G A G T T T T A A T G A T G C C A A G G A G A A A G T A A
1 1 6 3
1 1 6 4
1 1 6 5
1 1 6 6
1 1 6 7
1 1 6 8
1 1 6 9
1 1 7 0
1 1 7 1
1 1 7 2
1 1 7 3
1 1 7 4
1 1 7 5
1 1 7 6
1 1 7 7
1 1 7 8
1 1 7 9
1 1 8 0
1 1 8 1
1 1 8 2
1 1 8 3
1 1 8 4
1 1 8 5
1 1 8 6
1 1 8 7
1 1 8 8
1 1 8 9
1 1 9 0
1 1 9 1
1 1 9 2
1 1 9 3
1 1 9 4
1 1 9 5
1 1 9 6
1 1 9 7
1 1 9 8
r (g)
G g t g a g g t g g t g a c a a a g g t g a g c c a c t a g c t c t g g
1 1 9 9
g g g c c t c c t g a c t g g t g c c a c t c a t c t g t g g g t g g t
tgg del c aac
t c c a g g a g a g t g g a c t c c a a t g t c t a c a g t a t t t g t
cc
a c a t a g a c a g t t t c t c t c c a t g t t c t c a c c t c t t
t g
g t c g t t a a g g a t c c c g t c t a g g g a g g t g t c c t g t t t
c c t a a a a a a g a a g t a a a a t g c c a c t g a g a a c t c t c t
t a a g a c t a c c t t t c t c c a a a t g g t g c c c c t t c a c t c
400 401 402 403 404 405
(A r) g A s n P h e A l a A l a T
a a g c c t g t g g t t t t g g t c t t a g G A A C T T T G C T G C C A
1 2 0 0
1 2 0 1
1 2 0 2
1 2 0 3
1 2 0 4
1 2 0 5
1 2 0 6
1 2 0 7
1 2 0 8
1 2 0 9
1 2 1 0
1 2 1 1
1 2 1 2
1 2 1 3
E12
406 407 408 409 410 411 412 413 414 415 416 417
h r I l e P r o A r g P r o P h e S e r V a l A r g T y r A s p P r o T
C A A T A C C T C G G C C C T T C T C A G T T C G C T A C G A C C C A T
1 2 1 4
1 2 1 5
1 2 1 6
1 2 1 7
1 2 1 8
1 2 1 9
1 2 2 0
1 2 2 1
1 2 2 2
1 2 2 3
1 2 2 4
1 2 2 5
1 2 2 6
1 2 2 7
1 2 2 8
1 2 2 9
1 2 3 0
1 2 3 1
1 2 3 2
1 2 3 3
1 2 3 4
1 2 3 5
1 2 3 6
1 2 3 7
1 2 3 8
1 2 3 9
1 2 4 0
1 2 4 1
1 2 4 2
1 2 4 3
1 2 4 4
1 2 4 5
1 2 4 6
1 2 4 7
1 2 4 8
1 2 4 9
418 419 420 421 422 423 424 425 426 427 428 429
y r T h r G l n A r g I l e G l u V a l L e u A s p A s n T h r G l n G
A C A C C C A A A G G A T T G A G G T C T T G G A C A A T A C C C A G C
1 2 5 0
1 2 5 1
1 2 5 2
1 2 5 3
1 2 5 4
1 2 5 5
1 2 5 6
1 2 5 7
1 2 5 8
1 2 5 9
1 2 6 0
1 2 6 1
1 2 6 2
1 2 6 3
1 2 6 4
1 2 6 5
1 2 6 6
1 2 6 7
1 2 6 8
1 2 6 9
1 2 7 0
1 2 7 1
1 2 7 2
1 2 7 3
1 2 7 4
1 2 7 5
1 2 7 6
1 2 7 7
1 2 7 8
1 2 7 9
1 2 8 0
1 2 8 1
1 2 8 2
1 2 8 3
1 2 8 4
1 2 8 5
430 431 432 433 434 435 436 437 438 439
l n L e u L y s I l e L e u A l a A s p S e r I l e A s n S (e r)
A G C T T A A G A T T T T G G C T G A T T C C A T T A A C A g t a a g t
1 2 8 6
1 2 8 7
1 2 8 8
1 2 8 9
1 2 9 0
1 2 9 1
1 2 9 2
1 2 9 3
1 2 9 4
1 2 9 5
1 2 9 6
1 2 9 7
1 2 9 8
1 2 9 9
1 3 0 0
1 3 0 1
1 3 0 2
1 3 0 3
1 3 0 4
1 3 0 5
1 3 0 6
1 3 0 7
1 3 0 8
1 3 0 9
1 3 1 0
1 3 1 1
1 3 1 2
1 3 1 3
1 3 1 4
1 3 1 5
del del del del
a a t t t a c a c c t t a c g a g g c c a c t c g g t t t c t c a g t a
a t c g a a g a c t g t c t t t c c c t a c c a t c g c c a t a g g
a g
c a c c c a g c t c a t c c a a g a a g g c c c a c t t a t c c c c t a
g t c t t t c a c t a g g a c a c t t g a a g a g t t t t t g c t t a t
gt/ga
t a t a c a a g t g g c c c a t t t t g a t g g t g t t t t t c t t t g
439 440 441 442 443 444 445 446 447 448 449 450
(S) e r G l u I l e G l y I l e L e u C y s S e r A l a L e u G l u L
t a g G T G A A A T T G G A A T C C T T T G C A G T G C C C T C C A G A
1 3 1 6
1 3 1 7
1 3 1 8
1 3 1 9
1 3 2 0
1 3 2 1
1 3 2 2
1 3 2 3
1 3 2 4
1 3 2 5
1 3 2 6
1 3 2 7
1 3 2 8
1 3 2 9
1 3 3 0
1 3 3 1
1 3 3 2
1 3 3 3
1 3 3 4
1 3 3 5
1 3 3 6
1 3 3 7
1 3 3 8
1 3 3 9
1 3 4 0
1 3 4 1
1 3 4 2
1 3 4 3
1 3 4 4
1 3 4 5
1 3 4 6
1 3 4 7
1 3 4 8
E13
451 452 STOP
y s I l e L y s T e r
A A A T A A A G T A A A G C C A T G G A C A G A A T G T G G T C T G T C
1 3 4 9
1 3 5 0
1 3 5 1
1 3 5 2
1 3 5 3
1 3 5 4
1 3 5 5
1 3 5 6
1 3 5 7
1 3 5 8
1 3 5 9
3'UTR
->
A G C T G T G A A T C T G T T G A T G G A G A T C C A A C T A T T T C T
T T C A T C A G A A A A A G T C C G A A A A G C A A A C C T T A A T T T
G A A A T A A C A G C C T T A A A T C C T T T A C A A G A T G G A G A A
A C A A C A A A T A A G T C A A A A T A A T C T G A A A T G A C A G G A
T A T G A G T A C A T A C T C A A G A G C A T A A T G G T A A A T C T T
T T G G G G T C A T C T T T G A T T T A G A G A T G A T A A T C C C A T
A C T C T C A A T T G A G T T A A A T C A G T A A T C T G T C G C A T T
T C A T C A A G A T T A A T T A A A A T T T G G G A C C T G C T T C A T
T C A A G C T T C A T A T A T G C T T T G C A G A G A A C T C A T A A A
G G A G C A T A T A A G G C T A A A T G T A A A A C A C A A G A C T G T
C A T T A G A A T T G A A T T A T T G G G C T T A A T A T A A A T C G T
Copyright 1997, PAH Mutation Analysis Consortium.
8/9/2019 ref_seq pAH
http://slidepdf.com/reader/full/refseq-pah 7/7
A A C C T A T G A A G T T T A T T T T C T A T T T T A G T T A A C T A T
G A T T C C A A T T A C T A C T T T G T T A T T G T A C C T A A G T A A
A T T T T C T T T A G G T C A G A A G C C C A T T A A A A T A G T T A C
A A G C A T T G A A C T T C T T T A G T A T T A T A T T A A T A T A A A
A A C A T T T T T G T A T G T T T T A T T G T A A T C A T A A A T A C T
G C T G T A T A A G G T A A T A A A A C T C T G C A C C T A A T C C C C
A T A A C T T C C A G T A T C A T T T T C C A A T T A A T T A T C A A G
T C T G T T T G G G A A A C A C T T T G A G G A C A A T T T T G A T G C
A G C A G A T G T T G A C T A A A G G C T T G G T T G G T A G A T A T T
C A G G A A A T G T T C A C T G A A T A A A A T A A G T A A A T A C A T
T A T T G A A A A G C A A A T C T G T A T A A A T G T G A A A T T T T T
A T T T G T A T T A G T A A T A A A A C A T T A G T A G T T T
Copyright 1997, PAH Mutation Analysis Consortium.