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Results for the Protein: NP_000781
4503281
DDC

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
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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 ↕
GadBCOG00764.4e-7114480
DOPA_deC_likecd064501.4e-17776470
AAT_Icd014948.2e-54114317
Pyridoxal_deCpfam002821.8e-25935414

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11575542 Polymorphismp.ARG462GLNN/A
dbSNPrs11575292 Polymorphismp.GLU61ASPN/A
dbSNPrs6264 Polymorphismp.MET17VALN/A
dbSNPrs6263 Polymorphismp.MET217VALN/A
dbSNPrs6262 Polymorphismp.PRO210LEUN/A
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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