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Protein

Phenylalanine-4-hydroxylase

Gene

PAH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

L-phenylalanine + tetrahydrobiopterin + O2 = L-tyrosine + 4a-hydroxytetrahydrobiopterin.

Cofactori

Enzyme regulationi

N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and to constitute an "inhibitory" domain that regulates the activity of a catalytic domain in the C-terminal portion of the molecule.

Kineticsi

  1. KM=150 µM for L-Phe with BH4 as cofactor1 Publication
  2. KM=30 µM for BH41 Publication
  1. Vmax=3640 nmol/min/mg enzyme with BH4 as cofactor (preincubated with L-Phe)1 Publication
  2. Vmax=1230 nmol/min/mg enzyme with BH4 as cofactor (preincubated with BH4)1 Publication

Temperature dependencei

Optimum temperature is 50 degrees Celsius.1 Publication

Pathwayi: L-phenylalanine degradation

This protein is involved in step 1 of the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine.
Proteins known to be involved in the 6 steps of the subpathway in this organism are:
  1. Phenylalanine-4-hydroxylase (PAH)
  2. Tyrosine aminotransferase (TAT)
  3. 4-hydroxyphenylpyruvate dioxygenase (HPD)
  4. Homogentisate 1,2-dioxygenase (HGD)
  5. Maleylacetoacetate isomerase (GSTZ1)
  6. Fumarylacetoacetase (FAH)
This subpathway is part of the pathway L-phenylalanine degradation, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine, the pathway L-phenylalanine degradation and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi285Iron; via tele nitrogenBy similarity1
Metal bindingi290Iron; via tele nitrogenBy similarity1
Metal bindingi330IronBy similarity1

GO - Molecular functioni

  • amino acid binding Source: InterPro
  • iron ion binding Source: InterPro
  • phenylalanine 4-monooxygenase activity Source: CACAO

GO - Biological processi

  • aromatic amino acid family metabolic process Source: InterPro
  • catecholamine biosynthetic process Source: BHF-UCL
  • cellular amino acid biosynthetic process Source: ProtInc
  • L-phenylalanine catabolic process Source: Reactome
  • neurotransmitter biosynthetic process Source: BHF-UCL
Complete GO annotation...

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processPhenylalanine catabolism
LigandIron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS10374-MONOMER.
ZFISH:HS10374-MONOMER.
BRENDAi1.14.16.1. 2681.
ReactomeiR-HSA-71182. Phenylalanine and tyrosine catabolism.
SABIO-RKP00439.
UniPathwayiUPA00139; UER00337.

Names & Taxonomyi

Protein namesi
Recommended name:
Phenylalanine-4-hydroxylase (EC:1.14.16.1)
Short name:
PAH
Alternative name(s):
Phe-4-monooxygenase
Gene namesi
Name:PAH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:8582. PAH.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB

Pathology & Biotechi

Involvement in diseasei

Phenylketonuria (PKU)34 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.
See also OMIM:261600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00086916S → P in PKU. Corresponds to variant dbSNP:rs62642946Ensembl.1
Natural variantiVAR_00087039F → L in HPA and PKU; haplotype 1. Corresponds to variant dbSNP:rs626429261 PublicationEnsembl.1
Natural variantiVAR_00087139Missing in PKU; haplotypes 9,21. 2 Publications1
Natural variantiVAR_00087240S → L in PKU. Corresponds to variant dbSNP:rs626429381 PublicationEnsembl.1
Natural variantiVAR_00087341L → F in PKU. Corresponds to variant dbSNP:rs62642928Ensembl.1
Natural variantiVAR_00924041L → P in PKU; mild. Corresponds to variant dbSNP:rs62642916Ensembl.1
Natural variantiVAR_00087442K → I in PKU; haplotype 21. Corresponds to variant dbSNP:rs62635346Ensembl.1
Natural variantiVAR_06799445V → A in PKU. 1 Publication1
Natural variantiVAR_00087546G → S in PKU; haplotype 5; significantly reduces phenylalanine binding. Corresponds to variant dbSNP:rs746037841 PublicationEnsembl.1
Natural variantiVAR_00087647A → V in non-PKU HPA; haplotype 4; significantly reduces phenylalanine binding. Corresponds to variant dbSNP:rs1182039251 PublicationEnsembl.1
Natural variantiVAR_00087748L → S in PKU; mild; haplotypes 3,4. Corresponds to variant dbSNP:rs50308415 PublicationsEnsembl.1
Natural variantiVAR_00087853R → H in PKU. Corresponds to variant dbSNP:rs1180927761 PublicationEnsembl.1
Natural variantiVAR_00087955F → L in HPA and PKU; does not affect oligomerization; results in loss of substrate activation. Corresponds to variant dbSNP:rs1994755983 PublicationsEnsembl.1
Natural variantiVAR_00088056E → D in PKU; haplotype 10. Corresponds to variant dbSNP:rs199475567Ensembl.1
Natural variantiVAR_06799561N → D in PKU. Corresponds to variant dbSNP:rs1994756511 PublicationEnsembl.1
Natural variantiVAR_06799662L → P in PKU. 1 Publication1
Natural variantiVAR_00088163 – 64TH → PN in PKU; haplotype 1; abolishes phenylalanine binding. 2
Natural variantiVAR_00088265I → N in PKU. Corresponds to variant dbSNP:rs751937861 PublicationEnsembl.1
Natural variantiVAR_06799765I → S in PKU; results in disturbed oligomerization; results in loss of substrate activation. Corresponds to variant dbSNP:rs751937862 PublicationsEnsembl.1
Natural variantiVAR_00088365I → T in PKU; haplotypes 1,5,9,21,B; abolishes phenylalanine binding. Corresponds to variant dbSNP:rs751937863 PublicationsEnsembl.1
Natural variantiVAR_06799865I → V in HPA and PKU. Corresponds to variant dbSNP:rs1994756432 PublicationsEnsembl.1
Natural variantiVAR_00088467S → P in PKU; haplotype 4. Corresponds to variant dbSNP:rs5030842Ensembl.1
Natural variantiVAR_00088568R → S in PKU; haplotype 1. Corresponds to variant dbSNP:rs763947841 PublicationEnsembl.1
Natural variantiVAR_00088676E → A in PKU. Corresponds to variant dbSNP:rs62507347Ensembl.1
Natural variantiVAR_06799976E → G in non-PKU HPA. Corresponds to variant dbSNP:rs625073471 PublicationEnsembl.1
Natural variantiVAR_00088784D → Y in PKU; haplotype 4. Corresponds to variant dbSNP:rs62514902Ensembl.1
Natural variantiVAR_00088887S → R in non-PKU HPA; haplotype 1. Corresponds to variant dbSNP:rs625161511 PublicationEnsembl.1
Natural variantiVAR_00088992T → I in PKU. Corresponds to variant dbSNP:rs62514903Ensembl.1
Natural variantiVAR_00089094Missing in PKU; mild; haplotype 2. 1 Publication1
Natural variantiVAR_00089198L → S in non-PKU HPA. Corresponds to variant dbSNP:rs625171671 PublicationEnsembl.1
Natural variantiVAR_000892104A → D in PKU; mild; haplotype 1. Corresponds to variant dbSNP:rs626429291 PublicationEnsembl.1
Natural variantiVAR_000893124T → I in PKU; haplotype 28. Corresponds to variant dbSNP:rs199475571Ensembl.1
Natural variantiVAR_000894129D → Y in PKU. Corresponds to variant dbSNP:rs199475606Ensembl.1
Natural variantiVAR_000895143D → G in PKU; haplotype 11. Corresponds to variant dbSNP:rs1994755721 PublicationEnsembl.1
Natural variantiVAR_011566145D → V in PKU. Corresponds to variant dbSNP:rs140175796Ensembl.1
Natural variantiVAR_000896146H → Y in PKU. Corresponds to variant dbSNP:rs199475599Ensembl.1
Natural variantiVAR_000897148G → S in PKU; haplotypes 1,2,7. Corresponds to variant dbSNP:rs80297647Ensembl.1
Natural variantiVAR_000898151D → H in PKU; haplotypes 1,8. Corresponds to variant dbSNP:rs199475597Ensembl.1
Natural variantiVAR_000899154Y → N in PKU. Corresponds to variant dbSNP:rs199475587Ensembl.1
Natural variantiVAR_009242155R → P in PKU. Corresponds to variant dbSNP:rs199475663Ensembl.1
Natural variantiVAR_000900157R → N in PKU; severe; 5% activity; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_068000157R → S in PKU. Corresponds to variant dbSNP:rs1994756121 PublicationEnsembl.1
Natural variantiVAR_000901158R → Q in PKU; haplotypes 1,2,4,7,16, 28. Corresponds to variant dbSNP:rs50308433 PublicationsEnsembl.1
Natural variantiVAR_000902158R → W in PKU. Corresponds to variant dbSNP:rs75166491Ensembl.1
Natural variantiVAR_000903160Q → P in PKU. Corresponds to variant dbSNP:rs199475601Ensembl.1
Natural variantiVAR_000904161F → S in PKU; haplotype 4. Corresponds to variant dbSNP:rs79635844Ensembl.1
Natural variantiVAR_000905164I → T in PKU; haplotype 1. Corresponds to variant dbSNP:rs1994755951 PublicationEnsembl.1
Natural variantiVAR_000906167N → I in PKU. Corresponds to variant dbSNP:rs775549251 PublicationEnsembl.1
Natural variantiVAR_011568169R → H in PKU. Corresponds to variant dbSNP:rs199475679Ensembl.1
Natural variantiVAR_068001170H → Q in PKU; does not affect oligomerization. Corresponds to variant dbSNP:rs1994756522 PublicationsEnsembl.1
Natural variantiVAR_000907170H → R in PKU. Corresponds to variant dbSNP:rs199475573Ensembl.1
Natural variantiVAR_000908171G → A in PKU; haplotype 1. Corresponds to variant dbSNP:rs1994755961 PublicationEnsembl.1
Natural variantiVAR_000909171G → R in PKU. Corresponds to variant dbSNP:rs199475613Ensembl.1
Natural variantiVAR_000910173P → T in PKU; haplotype 4. Corresponds to variant dbSNP:rs199475574Ensembl.1
Natural variantiVAR_000911174I → T in PKU; haplotype 1. Corresponds to variant dbSNP:rs138809906Ensembl.1
Natural variantiVAR_011570174I → V in PKU. Corresponds to variant dbSNP:rs199475632Ensembl.1
Natural variantiVAR_000912175P → A in PKU. Corresponds to variant dbSNP:rs199475604Ensembl.1
Natural variantiVAR_000913176R → L in non-PKU HPA. Corresponds to variant dbSNP:rs744868031 PublicationEnsembl.1
Natural variantiVAR_000914176R → P in PKU. Corresponds to variant dbSNP:rs74486803Ensembl.1
Natural variantiVAR_000915177V → L in PKU; haplotype 6. Corresponds to variant dbSNP:rs1994756021 PublicationEnsembl.1
Natural variantiVAR_000916178E → G in non-PKU HPA. Corresponds to variant dbSNP:rs779582231 PublicationEnsembl.1
Natural variantiVAR_009243183E → Q in PKU. Corresponds to variant dbSNP:rs199475664Ensembl.1
Natural variantiVAR_000917190V → A in PKU; haplotype 3. Corresponds to variant dbSNP:rs625149192 PublicationsEnsembl.1
Natural variantiVAR_000918194L → P in PKU. Corresponds to variant dbSNP:rs5030844Ensembl.1
Natural variantiVAR_000919194Missing in PKU. 1
Natural variantiVAR_000920197Missing in PKU. 1
Natural variantiVAR_000921198Missing in PKU; haplotype 2. 1
Natural variantiVAR_000922201H → R in PKU. Corresponds to variant dbSNP:rs62517180Ensembl.1
Natural variantiVAR_000923201H → Y in non-PKU HPA; haplotype 1. Corresponds to variant dbSNP:rs625172052 PublicationsEnsembl.1
Natural variantiVAR_000924204Y → C in PKU; mild; haplotypes 3,4. Corresponds to variant dbSNP:rs625149271 PublicationEnsembl.1
Natural variantiVAR_011571205E → A in PKU. Corresponds to variant dbSNP:rs62508593Ensembl.1
Natural variantiVAR_000925206Y → D in PKU. Corresponds to variant dbSNP:rs62517170Ensembl.1
Natural variantiVAR_000926207N → D in PKU. Corresponds to variant dbSNP:rs625085721 PublicationEnsembl.1
Natural variantiVAR_000927207N → S in PKU; severe; haplotype 4. Corresponds to variant dbSNP:rs625087211 PublicationEnsembl.1
Natural variantiVAR_000928211P → T in PKU; haplotype 4. Corresponds to variant dbSNP:rs62514931Ensembl.1
Natural variantiVAR_000929212L → P in PKU. Corresponds to variant dbSNP:rs62517198Ensembl.1
Natural variantiVAR_000930213L → P in PKU; severe. Corresponds to variant dbSNP:rs625161091 PublicationEnsembl.1
Natural variantiVAR_000931217C → G in PKU. Corresponds to variant dbSNP:rs62508718Ensembl.1
Natural variantiVAR_000932218G → V in PKU; haplotypes 1,2. Corresponds to variant dbSNP:rs62514933Ensembl.1
Natural variantiVAR_000933221E → G in PKU; haplotype 4. Corresponds to variant dbSNP:rs625149341 PublicationEnsembl.1
Natural variantiVAR_000934222D → V in PKU; haplotypes 3,4. Corresponds to variant dbSNP:rs62507319Ensembl.1
Natural variantiVAR_000935224I → M in PKU; haplotype 4. Corresponds to variant dbSNP:rs199475576Ensembl.1
Natural variantiVAR_000936225P → R in PKU. Corresponds to variant dbSNP:rs62517204Ensembl.1
Natural variantiVAR_000937225P → T in PKU; haplotype 1. Corresponds to variant dbSNP:rs199475589Ensembl.1
Natural variantiVAR_068003226Q → H in PKU. Corresponds to variant dbSNP:rs625086151 PublicationEnsembl.1
Natural variantiVAR_000938230V → I in non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs625161521 PublicationEnsembl.1
Natural variantiVAR_009244231S → F in PKU. Corresponds to variant dbSNP:rs62508577Ensembl.1
Natural variantiVAR_000939231S → P in PKU. Corresponds to variant dbSNP:rs5030845Ensembl.1
Natural variantiVAR_000940233F → L in PKU; haplotypes 2,3. Corresponds to variant dbSNP:rs62517208Ensembl.1
Natural variantiVAR_000941238T → P in PKU; haplotype 4. Corresponds to variant dbSNP:rs199475577Ensembl.1
Natural variantiVAR_000942239G → S in PKU. Corresponds to variant dbSNP:rs625171781 PublicationEnsembl.1
Natural variantiVAR_011572240F → S in PKU. Corresponds to variant dbSNP:rs62508594Ensembl.1
Natural variantiVAR_000943241R → C in non-PKU HPA and PKU; haplotype 34. Corresponds to variant dbSNP:rs766875083 PublicationsEnsembl.1
Natural variantiVAR_000944241R → H in PKU; haplotypes 1,5. Corresponds to variant dbSNP:rs62508730Ensembl.1
Natural variantiVAR_000945241R → L in PKU. Corresponds to variant dbSNP:rs62508730Ensembl.1
Natural variantiVAR_000946242L → F in PKU. Corresponds to variant dbSNP:rs199475578Ensembl.1
Natural variantiVAR_000947243R → Q in non-PKU HPA and PKU; haplotypes 4,7,9. Corresponds to variant dbSNP:rs625085882 PublicationsEnsembl.1
Natural variantiVAR_000948244P → L in PKU; haplotype 12. Corresponds to variant dbSNP:rs1182039231 PublicationEnsembl.1
Natural variantiVAR_000949245V → A in PKU, HPA and non-PKU HPA; haplotypes 3,7. Corresponds to variant dbSNP:rs7960520174 PublicationsEnsembl.1
Natural variantiVAR_000950245V → E in PKU; haplotype 11. Corresponds to variant dbSNP:rs76212747Ensembl.1
Natural variantiVAR_000951245V → L in PKU. Corresponds to variant dbSNP:rs62508694Ensembl.1
Natural variantiVAR_000952246A → D in PKU. Corresponds to variant dbSNP:rs199475610Ensembl.1
Natural variantiVAR_000953247G → V in PKU; haplotype 4. Corresponds to variant dbSNP:rs199475579Ensembl.1
Natural variantiVAR_000954248L → P in PKU. Corresponds to variant dbSNP:rs62507340Ensembl.1
Natural variantiVAR_000955249L → F in PKU; haplotype 1. Corresponds to variant dbSNP:rs74503222Ensembl.1
Natural variantiVAR_000956252R → G in PKU; haplotype 7. Corresponds to variant dbSNP:rs5030847Ensembl.1
Natural variantiVAR_000957252R → Q in PKU; haplotype 1. Corresponds to variant dbSNP:rs626445031 PublicationEnsembl.1
Natural variantiVAR_000958252R → W in PKU; haplotypes 1,6,7,8,42, 69; complete loss of activity. Corresponds to variant dbSNP:rs50308474 PublicationsEnsembl.1
Natural variantiVAR_000960255L → S in PKU; haplotype 36. Corresponds to variant dbSNP:rs626429301 PublicationEnsembl.1
Natural variantiVAR_000959255L → V in PKU; haplotypes 18,21. Corresponds to variant dbSNP:rs62642931Ensembl.1
Natural variantiVAR_000961257G → C in PKU. Corresponds to variant dbSNP:rs5030848Ensembl.1
Natural variantiVAR_000962259A → T in PKU; haplotype 3. Corresponds to variant dbSNP:rs62642932Ensembl.1
Natural variantiVAR_000963259A → V in PKU; haplotypes 7,42. Corresponds to variant dbSNP:rs118203921Ensembl.1
Natural variantiVAR_000964261R → P in PKU. Corresponds to variant dbSNP:rs5030849Ensembl.1
Natural variantiVAR_000965261R → Q in HPA and PKU; mild; haplotypes 1,2,4,22, 24,28. Corresponds to variant dbSNP:rs50308495 PublicationsEnsembl.1
Natural variantiVAR_000966263F → L in PKU. Corresponds to variant dbSNP:rs62642944Ensembl.1
Natural variantiVAR_000967264H → L in PKU. Corresponds to variant dbSNP:rs199475580Ensembl.1
Natural variantiVAR_000968265C → G in PKU. Corresponds to variant dbSNP:rs62517181Ensembl.1
Natural variantiVAR_000969269I → L in non-PKU HPA. Corresponds to variant dbSNP:rs625086921 PublicationEnsembl.1
Natural variantiVAR_000970270R → K in PKU. Corresponds to variant dbSNP:rs62514950Ensembl.1
Natural variantiVAR_000971270R → S in PKU; haplotype 1. Corresponds to variant dbSNP:rs62514951Ensembl.1
Natural variantiVAR_000972271H → Y in PKU. Corresponds to variant dbSNP:rs62517164Ensembl.1
Natural variantiVAR_000973273S → F in PKU; haplotype 7. Corresponds to variant dbSNP:rs62514953Ensembl.1
Natural variantiVAR_068004275P → L in PKU; reduced activity; increased affinity for the substrate; mildly reduced substrate activation; decreased cofactor affinity. Corresponds to variant dbSNP:rs625087152 PublicationsEnsembl.1
Natural variantiVAR_000974276M → I in PKU. Corresponds to variant dbSNP:rs62514954Ensembl.1
Natural variantiVAR_000975276M → V in PKU; haplotype 4. Corresponds to variant dbSNP:rs625161491 PublicationEnsembl.1
Natural variantiVAR_000976277Y → C in PKU. Corresponds to variant dbSNP:rs62516155Ensembl.1
Natural variantiVAR_000977277Y → D in PKU; haplotype 2. Corresponds to variant dbSNP:rs78655458Ensembl.1
Natural variantiVAR_000978278T → A in PKU. Corresponds to variant dbSNP:rs62516156Ensembl.1
Natural variantiVAR_000979278T → N in PKU. Corresponds to variant dbSNP:rs62507262Ensembl.1
Natural variantiVAR_000980280E → K in PKU; haplotypes 1,2,4,16,38; partial residual activity. Corresponds to variant dbSNP:rs625086983 PublicationsEnsembl.1
Natural variantiVAR_000981281P → L in PKU; haplotypes 1,4. Corresponds to variant dbSNP:rs50308515 PublicationsEnsembl.1
Natural variantiVAR_000982282D → N in PKU; haplotype 1. Corresponds to variant dbSNP:rs199475582Ensembl.1
Natural variantiVAR_000983283I → F in PKU; haplotype 21. Corresponds to variant dbSNP:rs62517168Ensembl.1
Natural variantiVAR_000984283I → N in PKU; severe. Corresponds to variant dbSNP:rs625086931 PublicationEnsembl.1
Natural variantiVAR_067758290H → Y in PKU. 1 Publication1
Natural variantiVAR_000985297R → C in PKU; haplotype 4. Corresponds to variant dbSNP:rs62642945Ensembl.1
Natural variantiVAR_000986297R → H in PKU. Corresponds to variant dbSNP:rs62642939Ensembl.1
Natural variantiVAR_000987299F → C in PKU; haplotype 8. Corresponds to variant dbSNP:rs626429331 PublicationEnsembl.1
Natural variantiVAR_000988300A → S in PKU and HPA; haplotype 1; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs50308534 PublicationsEnsembl.1
Natural variantiVAR_000989300A → V in PKU. Corresponds to variant dbSNP:rs199475609Ensembl.1
Natural variantiVAR_000990303S → P in PKU; haplotype 5. Corresponds to variant dbSNP:rs199475608Ensembl.1
Natural variantiVAR_000991304Q → R in PKU. Corresponds to variant dbSNP:rs199475592Ensembl.1
Natural variantiVAR_000992306I → V in non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs626429342 PublicationsEnsembl.1
Natural variantiVAR_000993309A → D in PKU; haplotype 7. Corresponds to variant dbSNP:rs62642935Ensembl.1
Natural variantiVAR_000994309A → V in PKU. Corresponds to variant dbSNP:rs62642935Ensembl.1
Natural variantiVAR_000995310S → F in PKU; haplotype 7. Corresponds to variant dbSNP:rs62642913Ensembl.1
Natural variantiVAR_000996311L → P in PKU; haplotypes 1,7,10. Corresponds to variant dbSNP:rs626429362 PublicationsEnsembl.1
Natural variantiVAR_000997314P → H in PKU. Corresponds to variant dbSNP:rs62642940Ensembl.1
Natural variantiVAR_011574318I → T in PKU; partial loss of activity. Corresponds to variant dbSNP:rs626429181 PublicationEnsembl.1
Natural variantiVAR_000998322A → G in PKU; haplotype 12. Corresponds to variant dbSNP:rs62514958Ensembl.1
Natural variantiVAR_000999322A → T in PKU; haplotype 1. Corresponds to variant dbSNP:rs62514957Ensembl.1
Natural variantiVAR_067759322A → V in PKU. 1 Publication1
Natural variantiVAR_009245325Y → C in PKU. Corresponds to variant dbSNP:rs62508578Ensembl.1
Natural variantiVAR_009246330E → D in PKU. Corresponds to variant dbSNP:rs62508580Ensembl.1
Natural variantiVAR_001000331F → L in PKU; haplotype 1. Corresponds to variant dbSNP:rs625171791 PublicationEnsembl.1
Natural variantiVAR_001001333L → F in PKU. Corresponds to variant dbSNP:rs62516060Ensembl.1
Natural variantiVAR_001002334C → S in PKU. Corresponds to variant dbSNP:rs62517174Ensembl.1
Natural variantiVAR_001003337G → V in PKU. Corresponds to variant dbSNP:rs62517206Ensembl.1
Natural variantiVAR_001004338D → Y in PKU; haplotype 4. Corresponds to variant dbSNP:rs62516150Ensembl.1
Natural variantiVAR_001005341K → R in PKU. Corresponds to variant dbSNP:rs62516153Ensembl.1
Natural variantiVAR_001006341K → T in PKU. Corresponds to variant dbSNP:rs62516153Ensembl.1
Natural variantiVAR_001007342A → T in PKU; haplotype 5. Corresponds to variant dbSNP:rs62507282Ensembl.1
Natural variantiVAR_001008343Y → C in PKU. Corresponds to variant dbSNP:rs62507265Ensembl.1
Natural variantiVAR_009247344G → R in PKU. Corresponds to variant dbSNP:rs62508679Ensembl.1
Natural variantiVAR_009248344G → V in PKU. Corresponds to variant dbSNP:rs62508582Ensembl.1
Natural variantiVAR_001009345A → S in PKU. Corresponds to variant dbSNP:rs62516062Ensembl.1
Natural variantiVAR_001010345A → T in PKU; haplotype 7. Corresponds to variant dbSNP:rs62516062Ensembl.1
Natural variantiVAR_001011347L → F in PKU. Corresponds to variant dbSNP:rs62516154Ensembl.1
Natural variantiVAR_001012348L → V in PKU; mild haplotype 9. Corresponds to variant dbSNP:rs62516092Ensembl.1
Natural variantiVAR_001013349S → L in PKU; severe. Corresponds to variant dbSNP:rs625072791 PublicationEnsembl.1
Natural variantiVAR_001014349S → P in PKU; haplotypes 1,4. Corresponds to variant dbSNP:rs625086461 PublicationEnsembl.1
Natural variantiVAR_001015350S → T in PKU; haplotype 2. Corresponds to variant dbSNP:rs62517183Ensembl.1
Natural variantiVAR_011575357C → G in PKU. Corresponds to variant dbSNP:rs62508595Ensembl.1
Natural variantiVAR_001016362P → T in PKU. Corresponds to variant dbSNP:rs625073291 PublicationEnsembl.1
Natural variantiVAR_001018364 – 368Missing in PKU. 1 Publication5
Natural variantiVAR_001017364Missing in PKU; haplotype 5. 1 Publication1
Natural variantiVAR_001019366P → H in PKU. Corresponds to variant dbSNP:rs62516098Ensembl.1
Natural variantiVAR_001020372T → S in PKU. Corresponds to variant dbSNP:rs62517163Ensembl.1
Natural variantiVAR_001021377Y → C in PKU; haplotype 4. Corresponds to variant dbSNP:rs62642942Ensembl.1
Natural variantiVAR_001022380T → M in non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs626429371 PublicationEnsembl.1
Natural variantiVAR_001023386Y → C in PKU; common mutation. Corresponds to variant dbSNP:rs62516141Ensembl.1
Natural variantiVAR_001024387Y → H in PKU; haplotype 1. Corresponds to variant dbSNP:rs62517194Ensembl.1
Natural variantiVAR_001025388V → L in PKU. Corresponds to variant dbSNP:rs625161011 PublicationEnsembl.1
Natural variantiVAR_001026388V → M in PKU; haplotypes 1,4. Corresponds to variant dbSNP:rs62516101Ensembl.1
Natural variantiVAR_001027390E → G in PKU and non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs50308565 PublicationsEnsembl.1
Natural variantiVAR_001028394D → A in PKU. Corresponds to variant dbSNP:rs62516102Ensembl.1
Natural variantiVAR_001029394D → H in PKU. Corresponds to variant dbSNP:rs625161421 PublicationEnsembl.1
Natural variantiVAR_001030395A → G in PKU. Corresponds to variant dbSNP:rs62508736Ensembl.1
Natural variantiVAR_001031395A → P in PKU; haplotype 1. Corresponds to variant dbSNP:rs62516103Ensembl.1
Natural variantiVAR_001032399 – 400Missing in PKU; haplotype 7. 2
Natural variantiVAR_001033403A → V in non-PKU HPA and PKU; haplotype 43. Corresponds to variant dbSNP:rs50308574 PublicationsEnsembl.1
Natural variantiVAR_068007407P → L in PKU. Corresponds to variant dbSNP:rs626444731 PublicationEnsembl.1
Natural variantiVAR_011576407P → S in PKU. Corresponds to variant dbSNP:rs62644465Ensembl.1
Natural variantiVAR_001034408R → Q in PKU; haplotypes 4,12. Corresponds to variant dbSNP:rs50308591 PublicationEnsembl.1
Natural variantiVAR_001035408R → W in HPA and PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs50308588 PublicationsEnsembl.1
Natural variantiVAR_009249410F → S in PKU; mild. Corresponds to variant dbSNP:rs62644475Ensembl.1
Natural variantiVAR_001036413R → P in non-PKU HPA and PKU; haplotype 4. Corresponds to variant dbSNP:rs799314992 PublicationsEnsembl.1
Natural variantiVAR_001037413R → S in PKU; haplotype 1. Corresponds to variant dbSNP:rs62644467Ensembl.1
Natural variantiVAR_001038414Y → C in HPA and PKU; haplotype 4; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs50308603 PublicationsEnsembl.1
Natural variantiVAR_001039415D → N in PKU, HPA and non-PKU HPA; haplotype 1. Corresponds to variant dbSNP:rs626444993 PublicationsEnsembl.1
Natural variantiVAR_068008417Y → H in PKU; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs626444712 PublicationsEnsembl.1
Natural variantiVAR_001040418T → P in PKU; haplotype 4. Corresponds to variant dbSNP:rs62644501Ensembl.1
Natural variantiVAR_067760421I → S in PKU. 1 Publication1
Natural variantiVAR_001041430L → P in PKU. Corresponds to variant dbSNP:rs199475607Ensembl.1
Natural variantiVAR_001042447A → D in PKU. Corresponds to variant dbSNP:rs76542238Ensembl.1
Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one.
See also OMIM:261600
Hyperphenylalaninemia (HPA)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMildest form of phenylalanine hydroxylase deficiency.
See also OMIM:261600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00923920Q → L in HPA. Corresponds to variant dbSNP:rs199475662Ensembl.1
Natural variantiVAR_00087039F → L in HPA and PKU; haplotype 1. Corresponds to variant dbSNP:rs626429261 PublicationEnsembl.1
Natural variantiVAR_00087647A → V in non-PKU HPA; haplotype 4; significantly reduces phenylalanine binding. Corresponds to variant dbSNP:rs1182039251 PublicationEnsembl.1
Natural variantiVAR_00087955F → L in HPA and PKU; does not affect oligomerization; results in loss of substrate activation. Corresponds to variant dbSNP:rs1994755983 PublicationsEnsembl.1
Natural variantiVAR_06799865I → V in HPA and PKU. Corresponds to variant dbSNP:rs1994756432 PublicationsEnsembl.1
Natural variantiVAR_06799976E → G in non-PKU HPA. Corresponds to variant dbSNP:rs625073471 PublicationEnsembl.1
Natural variantiVAR_00088887S → R in non-PKU HPA; haplotype 1. Corresponds to variant dbSNP:rs625161511 PublicationEnsembl.1
Natural variantiVAR_00089198L → S in non-PKU HPA. Corresponds to variant dbSNP:rs625171671 PublicationEnsembl.1
Natural variantiVAR_009241110S → C in HPA. 1
Natural variantiVAR_069776121F → L in HPA. 1 Publication1
Natural variantiVAR_011567167N → S in HPA. Corresponds to variant dbSNP:rs77554925Ensembl.1
Natural variantiVAR_011569170H → D in HPA. Corresponds to variant dbSNP:rs199475655Ensembl.1
Natural variantiVAR_000913176R → L in non-PKU HPA. Corresponds to variant dbSNP:rs744868031 PublicationEnsembl.1
Natural variantiVAR_068002177V → M in HPA. Corresponds to variant dbSNP:rs1994756021 PublicationEnsembl.1
Natural variantiVAR_000916178E → G in non-PKU HPA. Corresponds to variant dbSNP:rs779582231 PublicationEnsembl.1
Natural variantiVAR_069777196S → Y in HPA. 1 Publication1
Natural variantiVAR_000923201H → Y in non-PKU HPA; haplotype 1. Corresponds to variant dbSNP:rs625172052 PublicationsEnsembl.1
Natural variantiVAR_000938230V → I in non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs625161521 PublicationEnsembl.1
Natural variantiVAR_000943241R → C in non-PKU HPA and PKU; haplotype 34. Corresponds to variant dbSNP:rs766875083 PublicationsEnsembl.1
Natural variantiVAR_000947243R → Q in non-PKU HPA and PKU; haplotypes 4,7,9. Corresponds to variant dbSNP:rs625085882 PublicationsEnsembl.1
Natural variantiVAR_000949245V → A in PKU, HPA and non-PKU HPA; haplotypes 3,7. Corresponds to variant dbSNP:rs7960520174 PublicationsEnsembl.1
Natural variantiVAR_000965261R → Q in HPA and PKU; mild; haplotypes 1,2,4,22, 24,28. Corresponds to variant dbSNP:rs50308495 PublicationsEnsembl.1
Natural variantiVAR_000969269I → L in non-PKU HPA. Corresponds to variant dbSNP:rs625086921 PublicationEnsembl.1
Natural variantiVAR_000988300A → S in PKU and HPA; haplotype 1; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs50308534 PublicationsEnsembl.1
Natural variantiVAR_000992306I → V in non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs626429342 PublicationsEnsembl.1
Natural variantiVAR_068005310S → Y in HPA; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs626429132 PublicationsEnsembl.1
Natural variantiVAR_068006314P → S in HPA; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs1994756502 PublicationsEnsembl.1
Natural variantiVAR_001022380T → M in non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs626429371 PublicationEnsembl.1
Natural variantiVAR_001027390E → G in PKU and non-PKU HPA; haplotype 4. Corresponds to variant dbSNP:rs50308565 PublicationsEnsembl.1
Natural variantiVAR_001033403A → V in non-PKU HPA and PKU; haplotype 43. Corresponds to variant dbSNP:rs50308574 PublicationsEnsembl.1
Natural variantiVAR_001035408R → W in HPA and PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs50308588 PublicationsEnsembl.1
Natural variantiVAR_001036413R → P in non-PKU HPA and PKU; haplotype 4. Corresponds to variant dbSNP:rs799314992 PublicationsEnsembl.1
Natural variantiVAR_001038414Y → C in HPA and PKU; haplotype 4; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery. Corresponds to variant dbSNP:rs50308603 PublicationsEnsembl.1
Natural variantiVAR_001039415D → N in PKU, HPA and non-PKU HPA; haplotype 1. Corresponds to variant dbSNP:rs626444993 PublicationsEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi283I → C: Loss of positive cooperativity and reduction of fold-activation by L-Phe preincubation. 1 Publication1

Keywords - Diseasei

Disease mutation, Phenylketonuria

Organism-specific databases

DisGeNETi5053.
MalaCardsiPAH.
MIMi261600. phenotype.
OpenTargetsiENSG00000171759.
Orphaneti79254. Classical phenylketonuria.
2209. Maternal hyperphenylalaninemia.
79651. Mild hyperphenylalaninemia.
79253. Mild phenylketonuria.
293284. Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria.
PharmGKBiPA32911.

Chemistry databases

ChEMBLiCHEMBL3076.
DrugBankiDB06262. Droxidopa.
DB00668. Epinephrine.
DB00120. L-Phenylalanine.
DB00368. Norepinephrine.
DB00360. Tetrahydrobiopterin.
GuidetoPHARMACOLOGYi1240.

Polymorphism and mutation databases

BioMutaiPAH.
DMDMi129973.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00002055482 – 452Phenylalanine-4-hydroxylaseAdd BLAST451

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei16Phosphoserine; by PKACombined sources1 Publication1

Post-translational modificationi

Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP00439.
MaxQBiP00439.
PaxDbiP00439.
PeptideAtlasiP00439.
PRIDEiP00439.

2D gel databases

UCD-2DPAGEP00439.

PTM databases

iPTMnetiP00439.
PhosphoSitePlusiP00439.

Expressioni

Gene expression databases

BgeeiENSG00000171759.
CleanExiHS_PAH.
ExpressionAtlasiP00439. baseline and differential.
GenevisibleiP00439. HS.

Organism-specific databases

HPAiHPA028407.
HPA031642.

Interactioni

Subunit structurei

Homodimer and homotetramer.1 Publication

Protein-protein interaction databases

BioGridi111090. 4 interactors.
DIPiDIP-58927N.
IntActiP00439. 3 interactors.
STRINGi9606.ENSP00000448059.

Chemistry databases

BindingDBiP00439.

Structurei

Secondary structure

1452
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi35 – 42Combined sources8
Helixi47 – 57Combined sources11
Beta strandi62 – 69Combined sources8
Beta strandi76 – 83Combined sources8
Helixi85 – 90Combined sources6
Helixi91 – 102Combined sources12
Beta strandi105 – 108Combined sources4
Helixi125 – 133Combined sources9
Beta strandi135 – 138Combined sources4
Helixi140 – 142Combined sources3
Turni147 – 150Combined sources4
Helixi152 – 167Combined sources16
Helixi181 – 201Combined sources21
Helixi204 – 217Combined sources14
Helixi227 – 238Combined sources12
Beta strandi241 – 244Combined sources4
Beta strandi246 – 248Combined sources3
Helixi251 – 259Combined sources9
Beta strandi262 – 265Combined sources4
Helixi283 – 289Combined sources7
Helixi291 – 294Combined sources4
Helixi297 – 310Combined sources14
Helixi315 – 327Combined sources13
Turni328 – 331Combined sources4
Beta strandi333 – 336Combined sources4
Beta strandi339 – 342Combined sources4
Helixi345 – 348Combined sources4
Helixi351 – 357Combined sources7
Beta strandi359 – 366Combined sources8
Helixi369 – 372Combined sources4
Beta strandi379 – 381Combined sources3
Beta strandi384 – 390Combined sources7
Helixi392 – 403Combined sources12
Beta strandi409 – 415Combined sources7
Turni416 – 419Combined sources4
Beta strandi420 – 424Combined sources5
Helixi426 – 450Combined sources25

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DMWX-ray2.00A118-424[»]
1J8TX-ray1.70A103-427[»]
1J8UX-ray1.50A103-427[»]
1KW0X-ray2.50A103-427[»]
1LRMX-ray2.10A103-427[»]
1MMKX-ray2.00A103-427[»]
1MMTX-ray2.00A103-427[»]
1PAHX-ray2.00A117-424[»]
1TDWX-ray2.10A117-424[»]
1TG2X-ray2.20A117-424[»]
2PAHX-ray3.10A/B118-452[»]
3PAHX-ray2.00A117-424[»]
4ANPX-ray2.11A104-427[»]
4PAHX-ray2.00A117-424[»]
5FIIX-ray1.80A/B/C/D19-118[»]
5PAHX-ray2.10A117-424[»]
6PAHX-ray2.15A117-424[»]
ProteinModelPortaliP00439.
SMRiP00439.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00439.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini36 – 114ACTPROSITE-ProRule annotationAdd BLAST79

Sequence similaritiesi

Contains 1 ACT domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3820. Eukaryota.
COG3186. LUCA.
GeneTreeiENSGT00390000010268.
HOGENOMiHOG000233373.
HOVERGENiHBG006841.
InParanoidiP00439.
KOiK00500.
OMAiEFFVECD.
OrthoDBiEOG091G05MZ.
PhylomeDBiP00439.
TreeFamiTF313327.

Family and domain databases

Gene3Di1.10.800.10. 1 hit.
InterProiIPR002912. ACT_dom.
IPR001273. ArAA_hydroxylase.
IPR018301. ArAA_hydroxylase_Fe/CU_BS.
IPR019774. Aromatic-AA_hydroxylase_C.
IPR005961. Phe-4-hydroxylase_tetra.
IPR019773. Tyrosine_3-monooxygenase-like.
[Graphical view]
PANTHERiPTHR11473. PTHR11473. 1 hit.
PfamiPF01842. ACT. 1 hit.
PF00351. Biopterin_H. 1 hit.
[Graphical view]
PIRSFiPIRSF000336. TH. 1 hit.
PRINTSiPR00372. FYWHYDRXLASE.
SUPFAMiSSF56534. SSF56534. 1 hit.
TIGRFAMsiTIGR01268. Phe4hydrox_tetr. 1 hit.
PROSITEiPS51671. ACT. 1 hit.
PS00367. BH4_AAA_HYDROXYL_1. 1 hit.
PS51410. BH4_AAA_HYDROXYL_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P00439-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSTAVLENPG LGRKLSDFGQ ETSYIEDNCN QNGAISLIFS LKEEVGALAK
60 70 80 90 100
VLRLFEENDV NLTHIESRPS RLKKDEYEFF THLDKRSLPA LTNIIKILRH
110 120 130 140 150
DIGATVHELS RDKKKDTVPW FPRTIQELDR FANQILSYGA ELDADHPGFK
160 170 180 190 200
DPVYRARRKQ FADIAYNYRH GQPIPRVEYM EEEKKTWGTV FKTLKSLYKT
210 220 230 240 250
HACYEYNHIF PLLEKYCGFH EDNIPQLEDV SQFLQTCTGF RLRPVAGLLS
260 270 280 290 300
SRDFLGGLAF RVFHCTQYIR HGSKPMYTPE PDICHELLGH VPLFSDRSFA
310 320 330 340 350
QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKQGDSI KAYGAGLLSS
360 370 380 390 400
FGELQYCLSE KPKLLPLELE KTAIQNYTVT EFQPLYYVAE SFNDAKEKVR
410 420 430 440 450
NFAATIPRPF SVRYDPYTQR IEVLDNTQQL KILADSINSE IGILCSALQK

IK
Length:452
Mass (Da):51,862
Last modified:July 21, 1986 - v1
Checksum:i018F00EBBBDDCE2F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti183E → G in AAH26251 (PubMed:15489334).Curated1

Polymorphismi

The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The enzyme activity of the variant protein is indistinguishable from that of the wild-type form.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00086916S → P in PKU. Corresponds to variant dbSNP:rs62642946Ensembl.1
Natural variantiVAR_00923920Q → L in HPA. Corresponds to variant dbSNP:rs199475662Ensembl.1
Natural variantiVAR_00087039F → L in HPA and PKU; haplotype 1. Corresponds to variant dbSNP:rs626429261 PublicationEnsembl.1
Natural variantiVAR_00087139Missing in PKU; haplotypes 9,21. 2 Publications1
Natural variantiVAR_00087240S → L in PKU. Corresponds to variant dbSNP:rs626429381 PublicationEnsembl.1
Natural variantiVAR_00087341L → F in PKU. Corresponds to variant dbSNP:rs62642928Ensembl.1
Natural variantiVAR_00924041L → P in PKU; mild. Corresponds to variant dbSNP:rs62642916Ensembl.1
Natural variantiVAR_00087442K → I in PKU; haplotype 21. Corresponds to variant dbSNP:rs62635346Ensembl.1
Natural variantiVAR_06799445V → A in PKU. 1 Publication1
Natural variantiVAR_00087546G → S in PKU; haplotype 5; significantly reduces phenylalanine binding. Corresponds to variant dbSNP:rs746037841 PublicationEnsembl.1
Natural variantiVAR_00087647A → V in non-PKU HPA; haplotype 4; significantly reduces phenylalanine binding. Corresponds to variant dbSNP:rs1182039251 PublicationEnsembl.1
Natural variantiVAR_00087748L → S in PKU; mild; haplotypes 3,4. Corresponds to variant dbSNP:rs50308415 PublicationsEnsembl.1
Natural variantiVAR_00087853R → H in PKU. Corresponds to variant dbSNP:rs1180927761 PublicationEnsembl.1
Natural variantiVAR_00087955F → L in HPA and PKU; does not affect oligomerization; results in loss of substrate activation. Corresponds to variant dbSNP:rs1994755983 PublicationsEnsembl.1
Natural variantiVAR_00088056E → D in PKU; haplotype 10. Corresponds to variant dbSNP:rs199475567Ensembl.1
Natural variantiVAR_06799561N → D in PKU. Corresponds to variant dbSNP:rs1994756511 PublicationEnsembl.1
Natural variantiVAR_06799662L → P in PKU. 1 Publication1
Natural variantiVAR_00088163 – 64TH → PN in PKU; haplotype 1; abolishes phenylalanine binding. 2
Natural variantiVAR_00088265I → N in PKU. Corresponds to variant dbSNP:rs751937861 PublicationEnsembl.1
Natural variantiVAR_06799765I → S in PKU; results in disturbed oligomerization; results in loss of substrate activation. Corresponds to variant dbSNP:rs751937862 PublicationsEnsembl.1
Natural variantiVAR_00088365I → T in PKU; haplotypes 1,5,9,21,B; abolishes phenylalanine binding. Corresponds to variant dbSNP:rs751937863 Publications