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Results for the Protein: NP_001229819
338968923
DDC

aromatic-L-amino-acid decarboxylase isoform 6 [Homo sapiens]

Known Diseases associated with this Protein:
  AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
6
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6
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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 ↕
GadBCOG00761.7e-0714338
DOPA_deC_likecd064502.8e-6076338
AAT_Icd014942.1e-52114317
Pyridoxal_deCpfam002821e-16035335

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM107930.0006 Diseasep.ALA275THRAROMATIC 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.PHE309LEUAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0004 Diseasep.SER147ARGAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM107930.0002 Diseasep.SER250PHEAROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY



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