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Results for the Protein: NP_001229815
338968914
DDC

aromatic-L-amino-acid decarboxylase isoform 2 [Homo sapiens]

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

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GadBCOG00763.3e-5014442
DOPA_deC_likecd064507.2e-15344432
AAT_Icd014948.2e-5476279
Pyridoxal_deCpfam002821.7e-21335376

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM107930.0006 Diseasep.ALA237THRAROMATIC 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.PHE271LEUAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0004 Diseasep.SER109ARGAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0002 Diseasep.SER212PHEAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY



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