Results for the protein: NP

Results for the Protein: NP_000781

4503281

1644

DDC

NCBI

aromatic-L-amino-acid decarboxylase isoform 1 [Homo sapiens]

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

6

5

6

5

0

Tips:

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Default View: GadB - COG0076 Pyridoxal_deC - pfam00282 DOPA_deC_like - cd06450 AAT_I - cd01494	RefSeq Protein: NP_000781 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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11575542	Polymorphism	p.ARG462GLN	N/A
dbSNP	rs11575292	Polymorphism	p.GLU61ASP	N/A
dbSNP	rs6264	Polymorphism	p.MET17VAL	N/A
dbSNP	rs6263	Polymorphism	p.MET217VAL	N/A
dbSNP	rs6262	Polymorphism	p.PRO210LEU	N/A
OMIM	107930.0006	Disease	p.ALA275THR	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM	107930.0005	Disease	p.ALA91VAL	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM	107930.0001	Disease	p.GLY102SER	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM	107930.0003	Disease	p.PHE309LEU	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM	107930.0004	Disease	p.SER147ARG	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM	107930.0002	Disease	p.SER250PHE	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

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