Results for the protein: P00439

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ACT_CM-PDT	cd04905	6.6e-07	34	109
ACT_AAAH	cd04904	5e-35	35	110
ACT_TPH	cd04929	7.6e-17	35	109
ACT_AAAH-PDT-like	cd04880	2.2e-24	36	110
ACT	cd02116	1.9e-07	37	99
eu_TrpOH	cd03346	9e-165	119	405
eu_PheOH	cd03347	2.1e-255	119	424
eu_TyrOH	cd03345	6.9e-198	120	417
pro_PheOH	cd03348	1.9e-37	169	398
arom_aa_hydroxylase	cd00361	4.1e-150	175	398
ACT	pfam01842	6.2e-10	35	100
Biopterin_H	pfam00351	5.2e-221	119	427
COG3186	COG3186	1.5e-22	144	426

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_000892	Disease	p.ALA104ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000952	Disease	p.ALA246ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000993	Disease	p.ALA309ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_001042	Disease	p.ALA447ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000998	Disease	p.ALA322GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_001030	Disease	p.ALA395GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_001031	Disease	p.ALA395PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000988	Disease	p.ALA300SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_001009	Disease	p.ALA345SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000962	Disease	p.ALA259THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000999	Disease	p.ALA322THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_001007	Disease	p.ALA342THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_001010	Disease	p.ALA345THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000963	Disease	p.ALA259VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000989	Disease	p.ALA300VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000994	Disease	p.ALA309VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_067759	Disease	p.ALA322VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_001033	Disease	p.ALA403VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000876	Disease	p.ALA47VAL	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000900	Disease	p.ARG157ASN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000943	Disease	p.ARG241CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000985	Disease	p.ARG297CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000901	Disease	p.ARG158GLN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000947	Disease	p.ARG243GLN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000957	Disease	p.ARG252GLN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000965	Disease	p.ARG261GLN	Phenylketonuria (PKU)
Swiss-Prot	VAR_001034	Disease	p.ARG408GLN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000956	Disease	p.ARG252GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_011568	Disease	p.ARG169HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000944	Disease	p.ARG241HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000986	Disease	p.ARG297HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000878	Disease	p.ARG53HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000913	Disease	p.ARG176LEU	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000945	Disease	p.ARG241LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000970	Disease	p.ARG270LYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_009242	Disease	p.ARG155PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000914	Disease	p.ARG176PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000964	Disease	p.ARG261PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_001036	Disease	p.ARG413PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_068000	Disease	p.ARG157SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000971	Disease	p.ARG270SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_001037	Disease	p.ARG413SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000885	Disease	p.ARG68SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000902	Disease	p.ARG158TRP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000958	Disease	p.ARG252TRP	Phenylketonuria (PKU)
Swiss-Prot	VAR_001035	Disease	p.ARG408TRP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000926	Disease	p.ASN207ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_067995	Disease	p.ASN61ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000906	Disease	p.ASN167ILE	Phenylketonuria (PKU)
Swiss-Prot	VAR_011567	Disease	p.ASN167SER	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_000927	Disease	p.ASN207SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_001028	Disease	p.ASP394ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_000982	Disease	p.ASP282ASN	Phenylketonuria (PKU)
Swiss-Prot	VAR_001039	Disease	p.ASP415ASN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000895	Disease	p.ASP143GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_000898	Disease	p.ASP151HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_001029	Disease	p.ASP394HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000894	Disease	p.ASP129TYR	Phenylketonuria (PKU)
Swiss-Prot	VAR_001004	Disease	p.ASP338TYR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000887	Disease	p.ASP84TYR	Phenylketonuria (PKU)
Swiss-Prot	VAR_011566	Disease	p.ASP145VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000934	Disease	p.ASP222VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000931	Disease	p.CYS217GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_000968	Disease	p.CYS265GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_011575	Disease	p.CYS357GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_001002	Disease	p.CYS334SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000991	Disease	p.GLN304ARG	Phenylketonuria (PKU)
Swiss-Prot	VAR_068003	Disease	p.GLN226HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_009239	Disease	p.GLN20LEU	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_000903	Disease	p.GLN160PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_011571	Disease	p.GLU205ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_000886	Disease	p.GLU76ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_009246	Disease	p.GLU330ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000880	Disease	p.GLU56ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_009243	Disease	p.GLU183GLN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000916	Disease	p.GLU178GLY	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000933	Disease	p.GLU221GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_001027	Disease	p.GLU390GLY	Phenylketonuria (PKU)
Swiss-Prot	VAR_067999	Disease	p.GLU76GLY	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000980	Disease	p.GLU280LYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000908	Disease	p.GLY171ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_000909	Disease	p.GLY171ARG	Phenylketonuria (PKU)
Swiss-Prot	VAR_009247	Disease	p.GLY344ARG	Phenylketonuria (PKU)
Swiss-Prot	VAR_000961	Disease	p.GLY257CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000897	Disease	p.GLY148SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000942	Disease	p.GLY239SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000875	Disease	p.GLY46SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000932	Disease	p.GLY218VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000953	Disease	p.GLY247VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_001003	Disease	p.GLY337VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_009248	Disease	p.GLY344VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000907	Disease	p.HIS170ARG	Phenylketonuria (PKU)
Swiss-Prot	VAR_000922	Disease	p.HIS201ARG	Phenylketonuria (PKU)
Swiss-Prot	VAR_011569	Disease	p.HIS170ASP	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_068001	Disease	p.HIS170GLN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000967	Disease	p.HIS264LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000896	Disease	p.HIS146TYR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000923	Disease	p.HIS201TYR	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000972	Disease	p.HIS271TYR	Phenylketonuria (PKU)
Swiss-Prot	VAR_067758	Disease	p.HIS290TYR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000984	Disease	p.ILE283ASN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000882	Disease	p.ILE65ASN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000969	Disease	p.ILE269LEU	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000935	Disease	p.ILE224MET	Phenylketonuria (PKU)
Swiss-Prot	VAR_000983	Disease	p.ILE283PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_067760	Disease	p.ILE421SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_067997	Disease	p.ILE65SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000905	Disease	p.ILE164THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000911	Disease	p.ILE174THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_011574	Disease	p.ILE318THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000883	Disease	p.ILE65THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_011570	Disease	p.ILE174VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000992	Disease	p.ILE306VAL	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_067998	Disease	p.ILE65VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000946	Disease	p.LEU242PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000955	Disease	p.LEU249PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_001001	Disease	p.LEU333PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_001011	Disease	p.LEU347PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000873	Disease	p.LEU41PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000918	Disease	p.LEU194PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000929	Disease	p.LEU212PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000930	Disease	p.LEU213PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000954	Disease	p.LEU248PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000996	Disease	p.LEU311PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_009240	Disease	p.LEU41PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_001041	Disease	p.LEU430PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_067996	Disease	p.LEU62PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000960	Disease	p.LEU255SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000877	Disease	p.LEU48SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000891	Disease	p.LEU98SER	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000959	Disease	p.LEU255VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_001012	Disease	p.LEU348VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_001005	Disease	p.LYS341ARG	Phenylketonuria (PKU)
Swiss-Prot	VAR_011573	Polymorphism	p.LYS274GLU	N/A
Swiss-Prot	VAR_000874	Disease	p.LYS42ILE	Phenylketonuria (PKU)
Swiss-Prot	VAR_001006	Disease	p.LYS341THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000974	Disease	p.MET276ILE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000975	Disease	p.MET276VAL	Phenylketonuria (PKU)
Swiss-Prot	VAR_000987	Disease	p.PHE299CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_069776	Disease	p.PHE121LEU	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_000940	Disease	p.PHE233LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000966	Disease	p.PHE263LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_001000	Disease	p.PHE331LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000870	Disease	p.PHE39LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000879	Disease	p.PHE55LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000904	Disease	p.PHE161SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_011572	Disease	p.PHE240SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_009249	Disease	p.PHE410SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000912	Disease	p.PRO175ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_000936	Disease	p.PRO225ARG	Phenylketonuria (PKU)
Swiss-Prot	VAR_000997	Disease	p.PRO314HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_001019	Disease	p.PRO366HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000948	Disease	p.PRO244LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_068004	Disease	p.PRO275LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000981	Disease	p.PRO281LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_068007	Disease	p.PRO407LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_068006	Disease	p.PRO314SER	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_011576	Disease	p.PRO407SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000910	Disease	p.PRO173THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000928	Disease	p.PRO211THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000937	Disease	p.PRO225THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_001016	Disease	p.PRO362THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_000888	Disease	p.SER87ARG	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_009241	Disease	p.SER110CYS	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_001013	Disease	p.SER349LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000872	Disease	p.SER40LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_009244	Disease	p.SER231PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000973	Disease	p.SER273PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000995	Disease	p.SER310PHE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000869	Disease	p.SER16PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000939	Disease	p.SER231PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000990	Disease	p.SER303PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_001014	Disease	p.SER349PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_000884	Disease	p.SER67PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_001015	Disease	p.SER350THR	Phenylketonuria (PKU)
Swiss-Prot	VAR_069777	Disease	p.SER196TYR	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_068005	Disease	p.SER310TYR	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_000978	Disease	p.THR278ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_000979	Disease	p.THR278ASN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000893	Disease	p.THR124ILE	Phenylketonuria (PKU)
Swiss-Prot	VAR_000889	Disease	p.THR92ILE	Phenylketonuria (PKU)
Swiss-Prot	VAR_001022	Disease	p.THR380MET	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000941	Disease	p.THR238PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_001040	Disease	p.THR418PRO	Phenylketonuria (PKU)
Swiss-Prot	VAR_001020	Disease	p.THR372SER	Phenylketonuria (PKU)
Swiss-Prot	VAR_000899	Disease	p.TYR154ASN	Phenylketonuria (PKU)
Swiss-Prot	VAR_000925	Disease	p.TYR206ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000977	Disease	p.TYR277ASP	Phenylketonuria (PKU)
Swiss-Prot	VAR_000924	Disease	p.TYR204CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000976	Disease	p.TYR277CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_009245	Disease	p.TYR325CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_001008	Disease	p.TYR343CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_001021	Disease	p.TYR377CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_001023	Disease	p.TYR386CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_001038	Disease	p.TYR414CYS	Phenylketonuria (PKU)
Swiss-Prot	VAR_001024	Disease	p.TYR387HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_068008	Disease	p.TYR417HIS	Phenylketonuria (PKU)
Swiss-Prot	VAR_000917	Disease	p.VAL190ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_000949	Disease	p.VAL245ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_067994	Disease	p.VAL45ALA	Phenylketonuria (PKU)
Swiss-Prot	VAR_000950	Disease	p.VAL245GLU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000938	Disease	p.VAL230ILE	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Swiss-Prot	VAR_000915	Disease	p.VAL177LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_000951	Disease	p.VAL245LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_001025	Disease	p.VAL388LEU	Phenylketonuria (PKU)
Swiss-Prot	VAR_068002	Disease	p.VAL177MET	Hyperphenylalaninemia (HPA)
Swiss-Prot	VAR_001026	Disease	p.VAL388MET	Phenylketonuria (PKU)
OMIM	612349.0042	Disease	p.ALA322GLY	HYPERPHENYLALANINEMIA, NON-PKU MILD
OMIM	612349.0028	Disease	p.ALA259VAL	PHENYLKETONURIA
OMIM	612349.0056	Disease	p.ALA47VAL	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0010	Disease	p.ARG158GLN	PHENYLKETONURIA
OMIM	612349.0014	Disease	p.ARG243GLN	PHENYLKETONURIA
OMIM	612349.0006	Disease	p.ARG261GLN	PHENYLKETONURIA
OMIM	612349.0038	Disease	p.ARG408GLN	PHENYLKETONURIA
OMIM	612349.0058	Disease	p.ARG176LEU	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0016	Disease	p.ARG413PRO	PHENYLKETONURIA
OMIM	612349.0005	Disease	p.ARG111TER	PHENYLKETONURIA
OMIM	612349.0011	Disease	p.ARG243TER	PHENYLKETONURIA
OMIM	612349.0036	Disease	p.ARG261TER	PHENYLKETONURIA
OMIM	612349.0007	Disease	p.ARG252TRP	PHENYLKETONURIA
OMIM	612349.0002	Disease	p.ARG408TRP	PHENYLKETONURIA
OMIM	612349.0043	Disease	p.ASP415ASN	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0035	Disease	p.GLU221GLY	PHENYLKETONURIA
OMIM	612349.0051	Disease	p.GLU390GLY	HYPERPHENYLALANINEMIA, NON-PKU\|\|PHENYLKETONURIA, INCLUDED
OMIM	612349.0067	Disease	p.GLU76GLY	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0004	Disease	p.GLU280LYS	PHENYLKETONURIA
OMIM	612349.0055	Disease	p.GLY46SER	PHENYLKETONURIA
OMIM	612349.0020	Disease	p.GLY272TER	PHENYLKETONURIA
OMIM	612349.0063	Disease	p.ILE65THR	PHENYLKETONURIA
OMIM	612349.0044	Disease	p.ILE306VAL	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0050	Disease	p.LEU333PHE	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0003	Disease	p.LEU311PRO	PHENYLKETONURIA
OMIM	612349.0026	Disease	p.LEU255SER	PHENYLKETONURIA
OMIM	612349.0034	Disease	p.LEU48SER	PHENYLKETONURIA
OMIM	612349.0053	Disease	p.LEU98SER	HYPERPHENYLALANINEMIA, NON-PKU MILD
OMIM	612349.0039	Disease	p.PHE299CYS	PHENYLKETONURIA
OMIM	612349.0031	Disease	p.PHE39LEU	PHENYLKETONURIA
OMIM	612349.0047	Disease	p.PRO244LEU	PHENYLKETONURIA
OMIM	612349.0012	Disease	p.PRO281LEU	PHENYLKETONURIA
OMIM	612349.0062	Disease	p.PRO407LEU	PHENYLKETONURIA
OMIM	612349.0032	Disease	p.SER349ARG	PHENYLKETONURIA
OMIM	612349.0057	Disease	p.SER87ARG	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0023	Disease	p.SER273PHE	PHENYLKETONURIA
OMIM	612349.0041	Disease	p.SER349PRO	PHENYLKETONURIA
OMIM	612349.0052	Disease	p.SER359TER	PHENYLKETONURIA
OMIM	612349.0054	Disease	p.THR380MET	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0015	Disease	p.TRP326TER	PHENYLKETONURIA
OMIM	612349.0029	Disease	p.TYR277ASP	PHENYLKETONURIA
OMIM	612349.0013	Disease	p.TYR204CYS	PHENYLKETONURIA
OMIM	612349.0017	Disease	p.TYR414CYS	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0019	Disease	p.TYR356TER	PHENYLKETONURIA
OMIM	612349.0059	Disease	p.VAL245ALA	HYPERPHENYLALANINEMIA, NON-PKU
OMIM	612349.0045	Disease	p.VAL388MET	PHENYLKETONURIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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