X453_453+2del

K452>Kfs

A447D

Introns

EX1_EX2del

Polymorphic

Sites Pvu IIb

STR

Eco RI

VNTR

Phenylalanine

hydroxylase (PAH)

mutation map

5'UTR 3'UTR

revised January 8th, 2007 by:

Manyphong Phommarinh and Dr. Charles Scriver

1 2 3 4 65 7 8 9 11 12

Xmn I Hind III Eco RVPvu IIa BgI II

IVS1+5G>T[H4]

Introns

528 mutations identified to date

Missense mutation

Nonsense mutation

Silent mutation

Deletion of codon

Splice junction mutation

Frame shift (See database for nucleotide numbers; eg.

P89fs is the result of c.266_267insC)

CpG site

de novo mutation

Deletion

Insertion

Haplotype

New RE site

Unclassified haplotype

Met. to Val. substitution in codon 1M1V etc.

Note the exons represented as lines (13 exons in total) separating the numbered introns.

The prefix p. is omitted in the mutation names due to data congestion.

[H]

del

*

ins

fs

+#

Msp I

*

+ Mspl

A434D

L430P

N426N

L424S

E422K

T418P[H4]

Y417N

Y417H

D415N[H1,7]

Y414Y[H11]

Y414C[H1,4,9,16,27]

R413S

R413P[H4]

R413C

S411X

F410S

F410C

R408W[H1,2,5,27,34,41,44]

R408Q[H4,12,#]

P407S

P407L

P407>Lfs

I406T

A403V[H1,43]

F402L

**

*

*

P147S

H146Y

D145V

D143G[H1]

S137S

N133_Q134>Rfs

D129Y

D129G

T124I[H28]

P122Q

W120X

H170R

H170Q

H170D

R169H

Y168H

Y168>Sfs

N167S

N167I

Y166X

A165T

A165P

I164V

I164T

F161S[H4]

Q160P

R158W

R158Q[H1,2,4,7,16,28]

R158P

R157I

R157K

R157N

R155P

R155H

Y154N

Y154H

D151H[H1]

D151G

D151E

G148S[H1,2,7]

EX5 del

*

-1C>T[H9]

-71A>C[H7,34]

-147C>T[H9]

-224G>A[H9]

-348T>C[H1]

-4173_-407del

IVS2+1G>A[H1,5]

IVS2+5G>A

IVS2+5G>C[H5]

IVS2+5G>T[H28]

IVS2+6T>G

IVS2+19T>C[H5,6,11]

IVS2-13T>G

IVS4-5C>G

IVS4-1G>A[H4]

IVS6+17G>T

IVS6-96A>G

IVS6-7A>T

IVS6-2A>G[H1]

IVS6-1G>A

IVS7+1G>A[H1,4]

IVS7+2T->A[H7]

IVS7+3G>C

IVS7+5G>A

IVS7+25G>?

IVS7-2A>T[H7]

IVS8+1G>A

IVS8-7A>G

IVS8-5T>G

IVS11+1G>A[H4]

IVS11+1G>C

IVS11+2T>C

IVS11+5G>T

IVS11+17G>A

IVS11+20G>C

IVS11-8G>A[H4]

IVS11-1delG

IVS11-1G>A

IVS3-22C>T[H1,4]

IVS3-22G>A

IVS3-6T>A[H5]

[E56E;IVS2+1G>A]

E56D[H10]

F55L

F55>Lfs[H1]

F55del

L54S

R53H

R53C

L52S

L48S[H3,4,28]

A47V

A47E

G46S[H5]

G46>Vfs

E44_V45delinsV

E44del

K42I[H4,21]

L41P

L41F

S40L

F39L[H1]

F39del [H7,21,9]

I38fsX19

*

K115_D116>Tfs

R111X[H4]

S110L

A104D[H1]

I102T

L98S

I95_K96delinsK

I95F

I94S

I94del [H2]

T92I

P89S[H3]

P89>Pfs [H11]

L88_P89>Pfs [H11]

S87R[H1]

D84Y[H4]

T81P

T81_R86>VfsX6

E78K

Y77X

E76G

E76A

R71H

S70P

S70del

P69_S70delinsP

P69S

R68S[H1]

R68G

S67P[H4]

I65V

I65T[H1,4,5,9,21,B]

I65S

I65N

[T63P;H64N][H1]

N61K

N61D

D59Y

D59V

E57del

EX5 del 4232 ins 268

EX5 del 955

EX3 del 4765

EX3 del

*

Q235P

F233L[H2]

Q232X

Q232Q[H1,2,3,4,7]

S231P[H2]

S231F

V230I[H4]

V230G

Q226X

Q226H

P225T[H1]

P225R

P225A

I224T

I224M[H4]

D222V[H4]

D222G

E221G[H4]

E221_D222>Efs [H4]

G218V[H1,2]

C217Y

C217R

C217G

Y216X

L213P

L212P

P211T

P211>Hfs

N207D

N207S

Y206X[H1]

Y206D

Y206C

E205K

E205A

Y204X

EX6-96A>G

C203Y

C203C

H201Y[H1]

H201R

T200fsX6

Y198_E205>Cfs [H5]

L197_Y204>XfsX1

S196_C203>Lfs

L194P[H4]

L194>Efs

V190A[H3]

G188>Afs

W187X

W187R

W187C

T186_W187>Tfs [H4]

T186>Hfs

E183Q

E182G

Y179H

E178V

E178G

V177M

V177L[H6]

R176X

R176Q

R176P

R176L

P175A

I174V

I174T[H1]

P173T[H4]

Q172X

G171R

G171A[H1]

*

*

*

*

*

P281S

P281L[H1,4]

E280>Q280

E280K[H1,2,4,27,38,A]

E280G

E280>Dfs

E280_IVS7+3>fs

T278N

T278I

T278A

Y277D[H2]

Y277C

M276V[H4]

M276R

M276K

M276I

P275S

P275R

P275L

K274_Y277>Nfs [H4]

K274E

S273F[H7]

G272X[H1,7]

H271Y

R270S[H1]

R270K

R270_G272>Rfs

I269N

I269>Tfs

I269L

Y268H

Q267H

Q267E

T266E

C265Y

C265G

H264L

F263L

R261X[H1,2,3,4]

R261Q[H1,2,4,24,28]

R261P[H1]

A259V[H7,42]

A259T[H3]

G257V

G257S[H1]

G257D[H1]

G257C

L255V[H18,21]

L255S[H36]

F254I

R252W[H1,6,7,42,69]

R252Q[H1]

R252G[H7]

L249H

L249F[H1]

L248R

L248P

G247V[H4]

G247S

G247R

G247D

A246V

R246>Vfs

A246D

V245V[H1,3,4,6,16,17,28]

V245L

V245I

V245E[H1]

V245A[H3,7]

P244L[H12]

R243X[H2,4,5]

R243Q[H4,7,9]

R243L

L242F

R241L

R241H[H5]

R241C[H34]

R241>Pfs

F240V

F240S

G239V

G239S

G239D

G239A

T238P[H4]

*

*

*

*

*

*

*

Q304R

Q304Q[H1]

S303P[H5]

S303A

A300V

A300S[H1]

F299del

F299C[H8]

R297H

R297C[H4]

S295X

H290R

L288F

E286K

H285Y

I283N

I283F[H21]

D282N[H1]

D282G

P281fs

T323T

T323del

A322T[H1]

A322G[H12]

L321L

K320N

I318T

D315Y

P314T

P314S

P314H

P314>Lfs [H4]

A313V

A313T

G312V

L311P[H1,7,10]

S310Y

S310_A313>Sfs

S310F[H7]

A309V[H1]

A309D

L308V

L308F

I306V[H4]

*

* R400T

R400R

R400K

R400>Gfs [H1]

V399V[H4]

V399_R400>Gfs

K398K

A395P[H1]

A395G

A395D

D394H

D394A

E390G[H4]

A389/E390/S391/>fs

A389>EfsX13

V388M[H1,4]

V388L

V388>Gfs

Y387H[H1]

Y386C

L385L[H1,3,7]

T380M[H4]

T378S

Y377>Tfs

Y377C[H4]

N376I fs X24

A373T

A373>Hfs [H12]

T372S

K371R

L367P

L367L

L367>Pfs [H1]

L367>Wfs

P366_L367>Pfs [H1]

P366H

L364_E368del [H4]

L364del [H5]

K363N

K363>Nfs

K363>Afs

P362T

S359X[H6]

C357G

Y356X[H12] (C>G)

Y356X[H3,4,7,9] (C>A)

Y356H

Y356delins???

*

IVS4_EX7del

EX5_EX6del

*

*

IVS5+1delG

IVS5+1G>A

IVS5+5delG

IVS5+54C>G

IVS5-54G>A

IVS5-54A>G

IVS5-6T>A

IVS5-6T>G

IVS4+1G>A[H1]

IVS4+3G>C

IVS4+4A>G

IVS4+5G>T

IVS4+47C>T

Q355X

G352R

G352>Vfs[H2]

G352>Gfs

G352C

S350Y

S350T[H2]

S349_S350>VIfs

S349X

S349P[H1,4]

S349L[H6]

S349A

L348V[H9]

L348_F351>Rfs

L347F

G346R

G346>Gfs [H16]

A345T[H7]

A345S

G344V

G344S

G344R

Y343F

Y343D

Y343C

A342T[H5]

A342P

A342>Hfs

K341X

K341T

K341R

I340T

D338Y[H4]

G337V

Q336X[H11]

Q336R

C334S

L333F

G332E

F331L[H1]

F331C

E330D

T328A

F327L

W326X[H4]

Y325X

Y325C

Q20X

Q20L

S16P

S16>XfsX1

G10G[H1,4]

M1V[H2]

M1R

M1I[H7]

PAHdel

UNK1deletion

1546G>A[H5,8,9,21]

1378G>T

IVS12+1G>A[H3]

IVS12+2T>C[H1]

IVS12+4A>G

IVS12+6T>A

IVS12-35C>T[H5,27]

IVS12-16T>G

IVS12-15T>C

IVS12-5T>C

IVS10+1G>A

IVS10+3A>C

IVS10+3A>G[H2]

IVS10+7C>A

IVS10+32T>A

IVS10+39G>T

IVS10+97G>A

IVS10-14C>G

IVS10-11G>A[H5,6,9,10,20,34,36,39]

IVS10-3C>T[H4,6]

IVS10-1G>A

IVS9+1G>A

IVS9+5G>A

IVS9+6T>A

IVS9+43G>T

IVS9-6T>G

IVS9-5T>A

IVS9-2A>C[H7]

IVS9-1_-78Altsplice