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Results for the Protein: NP_001229818
338968921
DDC

aromatic-L-amino-acid decarboxylase isoform 5 [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
AAT_I - cd01494
DOPA_deC_like - cd06450




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GadBCOG00762.7e-2014387
AAT_Icd014948e-0952224
DOPA_deC_likecd064501.5e-10076377
Pyridoxal_deCpfam002822.2e-16135321

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM107930.0006 Diseasep.ALA182THRAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0005 Diseasep.ALA91VALAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0001 Diseasep.GLY102SERAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0003 Diseasep.PHE216LEUAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0004 Diseasep.SER1ARGAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0002 Diseasep.SER157PHEAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY



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