Results for the protein: P20711

Results for the Protein: P20711

311033369

1644

DDC

NCBI, UniProt

DDC_HUMAN RecName: Full=Aromatic-L-amino-acid decarboxylase; Short=AADC; AltName: Full=DOPA decarboxylase; Short=DDC

Known Diseases associated with this Protein:
AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY (AADCD)

9

7

0

0

16

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Default View: GadB - COG0076 Pyridoxal_deC - pfam00282 DOPA_deC_like - cd06450 AAT_I - cd01494	Swiss-Prot Protein: P20711 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DOPA_deC_like	cd06450	1.4e-177	76	470
AAT_I	cd01494	8.2e-54	114	317
Pyridoxal_deC	pfam00282	1.8e-259	35	414

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046141	Disease	p.ALA275THR	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_046138	Disease	p.ALA91VAL	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_046143	Disease	p.ARG347GLN	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_019217	Polymorphism	p.ARG462GLN	N/A
Swiss-Prot	VAR_019214	Polymorphism	p.GLU61ASP	N/A
Swiss-Prot	VAR_019309	Disease	p.GLY102SER	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_046144	Disease	p.LEU408ILE	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_019215	Polymorphism	p.MET239ILE	N/A
Swiss-Prot	VAR_019216	Polymorphism	p.MET239LEU	N/A
Swiss-Prot	VAR_014788	Polymorphism	p.MET17VAL	N/A
Swiss-Prot	VAR_014790	Polymorphism	p.MET217VAL	N/A
Swiss-Prot	VAR_046142	Disease	p.PHE309LEU	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_046137	Disease	p.PRO47HIS	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_014789	Polymorphism	p.PRO210LEU	N/A
Swiss-Prot	VAR_046139	Disease	p.SER147ARG	Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-Prot	VAR_046140	Disease	p.SER250PHE	Aromatic L-amino-acid decarboxylase deficiency (AADCD)

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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