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Results for the Protein: NP_001229817
338968919
DDC

aromatic-L-amino-acid decarboxylase isoform 4 [Homo sapiens]

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

GadB - COG0076
DOPA_deC_like - cd06450
Pyridoxal_deC - pfam00282
AAT_I - cd01494




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DOPA_deC_likecd064506.8e-12329392
AAT_Icd014943.3e-4437239
Pyridoxal_deCpfam002822.4e-17035336

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM107930.0006 Diseasep.ALA197THRAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0005 Diseasep.ALA1VALAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0001 Diseasep.GLY1SERAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0003 Diseasep.PHE231LEUAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0004 Diseasep.SER69ARGAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0002 Diseasep.SER172PHEAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY



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