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
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- Curtis Newton
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1 2.1.1 PAH cdna Sequence Compiled by S.Byck, P.M.Nowacki, and Max Caccione. This Reference Sequence (simplified) is deposited in GenBank: U This sequence is derived from the following: Partial 5'UTR sequence, Konecki et al., Exon sequences, Kwok et al., 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., blue from DiLella intron data. dark green from Abadie et al., 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 Pvu II C A G C T G G G G G T A A G G G G G G 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 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 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 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 Ap-2 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 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 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 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 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 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 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 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 START 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 'UTR E1 <- -> 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
2 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 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 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 61 E 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 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 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 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 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 E 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 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 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 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 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 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 E 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 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 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 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 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 E 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 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 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 (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 510 E 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 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 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 T
4 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 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 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 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 707 E 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 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 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 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 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 (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 843 E 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 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 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
5 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 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 913 E 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 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 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 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 970 E 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 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 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 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 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 1066 E 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 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 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 A
6 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 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 1199 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 (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 1200 E 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 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 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 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 (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 1316 E 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 '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
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
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