ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
12-103232960-A-G	ENST00000553106	p.Ile451Thr	Missense Variant	1	31396	0.000032	rs781041737
12-103232965-C-G	ENST00000553106	p.Gln449His	Missense Variant	0	0	0	rs1258710210
12-103232966-T-C	ENST00000553106	p.Gln449Arg	Missense Variant	0	0	0	rs1441742009
12-103232968-G-A	ENST00000553106	p.Leu448Leu	Synonymous Variant	0	0	0	rs747923532
12-103232969-A-T	ENST00000553106	p.Leu448His	Missense Variant	0	0	0	rs769777460
12-103232972-G-T	ENST00000553106	p.Ala447Asp	Missense Variant	1	31402	0.000032	rs76542238
12-103232973-C-T	ENST00000553106	p.Ala447Thr	Missense Variant	0	0	0	rs1192400891
12-103232974-A-G	ENST00000553106	p.Ser446Ser	Synonymous Variant	0	0	0	rs749175668
12-103232975-C-T	ENST00000553106	p.Ser446Asn	Missense Variant	0	0	0	rs770906256
12-103232976-T-C	ENST00000553106	p.Ser446Gly	Missense Variant	0	0	0	rs565686453
12-103232982-G-A	ENST00000553106	p.Leu444Phe	Missense Variant	1	31390	0.000032	rs1402168594
12-103232982-G-T	ENST00000553106	p.Leu444Ile	Missense Variant	0	0	0	rs1402168594
12-103232996-C-T	ENST00000553106	p.Ser439Asn	Missense Variant	0	0	0	rs775391163
12-103234178-T-C	ENST00000553106	p.Ser439Gly	Missense Variant	0	0	0	rs989098970
12-103234188-A-T	ENST00000553106	p.Asp435Glu	Missense Variant	0	0	0	rs748303375
12-103234193-C-T	ENST00000553106	p.Ala434Thr	Missense Variant	0	0	0	rs1355432845
12-103234194-C-T	ENST00000553106	p.Leu433Leu	Synonymous Variant	0	0	0	rs770034263
12-103234207-T-G	ENST00000553106	p.Gln429Pro	Missense Variant	0	0	0	rs794727047
12-103234208-G-A	ENST00000553106	p.Gln429Ter	Stop Gained	0	0	0	rs764974157
12-103234208-G-T	ENST00000553106	p.Gln429Lys	Missense Variant	0	0	0	rs764974157

Showing 1 to 20 of 452 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
PAH	P00439	Phosphorylation	117	T117-p	SRDKKKDtVPWFPRT	51.86	23128963
PAH	P00439	Phosphorylation	16	S16-p	PGLGRKLsDFGQETS	51.86	449074
PAH	P00439	Phosphorylation	2	S2-p	______MstAVLENP	51.86	25303737
PAH	P00439	Phosphorylation	3	T3-p	_____MstAVLENPG	51.86	25303741
PAH	P00439	Phosphorylation	436	S436-p	QLKILADsINSEIGI	51.86	27996010
PAH	P00439	Phosphorylation	87	S87-p	FTHLDKRsLPALtNI	51.86	34499560
PAH	P00439	Phosphorylation	92	T92-p	KRsLPALtNIIKILR	51.86	23128966

Showing 1 to 7 of 7 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
PAH	ENST00000553106	16617	lung	carcinoma	85767509	c.169-2del	p.?	Unknown			Confirmed somatic variant	PMID: 22510280	primary	0
PAH	ENST00000553106	GCYC_396_T	stomach	carcinoma	85773519	c.843-138C>A	p.?	Unknown	NEUTRAL	.10882	Confirmed somatic variant	PMID: N/A	primary	0
PAH	ENST00000553106	TCGA-GF-A2C7-01	skin	malignant_melanoma	85769246	c.168+3C>T	p.?	Unknown		.59336	Confirmed somatic variant	PMID: N/A	NS	0
PAH	ENST00000553106	PD13760a	breast	carcinoma	85768594	c.353-6826G>A	p.?	Unknown	NEUTRAL	.04293	Confirmed somatic variant	PMID: N/A	NS	0
PAH	ENST00000553106	T_CCA_TH_12	biliary_tract	carcinoma	85767016	c.168+7733del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
PAH	ENST00000553106	SJHGG028_D	central_nervous_system	glioma	85772608	c.912+1409A>C	p.?	Unknown	NEUTRAL	.06422	Confirmed somatic variant	PMID: 24705251	NS	0
PAH	ENST00000553106	YUDIALE	skin	malignant_melanoma	85766691	c.232G>A	p.E78K	Substitution - Missense	PATHOGENIC	.96508	Confirmed somatic variant	PMID: 22842228	NS	78
PAH	ENST00000553106	T_CCA_TH_12	biliary_tract	carcinoma	85767010	c.509+512del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
PAH	ENST00000553106	5-VS054-T1	skin	carcinoma	85768703	c.1259G>A	p.R420K	Substitution - Missense	PATHOGENIC	.92978	Confirmed somatic variant	PMID: 26950094	NS	420
PAH	ENST00000553106	PD13418a	breast	carcinoma	85768297	c.353-5560C>T	p.?	Unknown	NEUTRAL	.0606	Confirmed somatic variant	PMID: N/A	NS	0
PAH	ENST00000553106	XG7	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	85770921	c.720C>T	p.F240=	Substitution - coding silent	PATHOGENIC	.88853	Variant of unknown origin	PMID: 30545397	NS	240
PAH	ENST00000553106	5-VS018-T1	skin	carcinoma	85769077	c.1140G>A	p.T380=	Substitution - coding silent	NEUTRAL	.01689	Confirmed somatic variant	PMID: 26950094	NS	380
PAH	ENST00000553106	LP6008280-DNA_A02	oesophagus	carcinoma	85771840	c.169-1056G>A	p.?	Unknown	NEUTRAL	.00293	Confirmed somatic variant	PMID: N/A	primary	0
PAH	ENST00000553106	5-VS030-T1	skin	carcinoma	85769077	c.1140G>A	p.T380=	Substitution - coding silent	NEUTRAL	.01689	Confirmed somatic variant	PMID: 26950094	NS	380
PAH	ENST00000553106	8066067	pancreas	carcinoma	85767958	c.169-8385C>T	p.?	Unknown	NEUTRAL	.00798	Confirmed somatic variant	PMID: N/A	NS	0
PAH	ENST00000553106	tumor_4147360	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	85768969	c.353-6190G>A	p.?	Unknown	NEUTRAL	.03653	Confirmed somatic variant	PMID: N/A	primary	0
PAH	ENST00000553106	EXTERN_MELA_20140924_023	skin	malignant_melanoma	85770778	c.1308C>T	p.S436=	Substitution - coding silent	PATHOGENIC	.83666	Confirmed somatic variant	PMID: 28467829	metastasis	436
PAH	ENST00000553106	413T	large_intestine	carcinoma	85767201	c.1223G>T	p.R408L	Substitution - Missense	PATHOGENIC	.91233	Variant of unknown origin	PMID: 24599305	primary	408
PAH	ENST00000553106	DN12035	breast	carcinoma	85767321	c.353-8084G>A	p.?	Unknown		.5403	Confirmed somatic variant	PMID: N/A	primary	0
PAH	ENST00000553106	TCGA-34-5927-01	lung	carcinoma	85769236	c.739G>A	p.G247S	Substitution - Missense	PATHOGENIC	.98683	Confirmed somatic variant	PMID: N/A	primary	247

Showing 1 to 20 of 507 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00351	Biopterin_H	Biopterin-dependent aromatic amino acid hydroxylase	119-449			Homo sapiens
PF01842	ACT	ACT domain	35-100	CL0070	ACT	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Bipolar Disorder	Mental Disorders ;	0.575	0.552
Phenylketonurias	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.575	0.552
Psychotic Disorders	Mental Disorders ;	0.575	0.552
Schizophrenia	Mental Disorders ;	0.575	0.552
Phenylketonuria, Maternal	Nervous System Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.575	0.552
Phenylketonuria II	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.575	0.552
Epileptic encephalopathy	N/A	0.575	0.552
Classical phenylketonuria	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.575	0.552
Hyperphenylalaninaemia	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.575	0.552
Hyperphenylalaninemia, Non-Phenylketonuric	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.575	0.552
Hyperphenylalaninemia, Non-Pku Mild	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.575	0.552
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.575	0.552
NO RESULT FOUND

Description:	Henna [Source:FlyBase;Acc:FBgn0001208]
Synonyms:	Tph, DTPH, ah, PAH, Dmel\CG7399, TRH, DTPHu, CG7399
Other ID(s):	FBgn0001208
Protein Accession Numbers:	NP_001261543, NP_001261542, NP_523963, NP_001014573
Statistics:	ClinVar(1420) gnomAD(452) COSMIC(507) PTM(7)

Classification of Clinicial Significance of ClinVar Data