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Results for the Protein: P20711
311033369
DDC

DDC_HUMAN RecName: Full=Aromatic-L-amino-acid decarboxylase; Short=AADC; AltName: Full=DOPA decarboxylase; Short=DDC

Known Diseases associated with this Protein:
  AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY (AADCD)
9
7
0
0
16
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Default View:

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


Swiss-Prot Protein: P20711
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GadBCOG00767e-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 ↕
Swiss-ProtVAR_046141Diseasep.ALA275THRAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_046138Diseasep.ALA91VALAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_046143Diseasep.ARG347GLNAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_019217Polymorphismp.ARG462GLNN/A
Swiss-ProtVAR_019214Polymorphismp.GLU61ASPN/A
Swiss-ProtVAR_019309Diseasep.GLY102SERAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_046144Diseasep.LEU408ILEAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_019215Polymorphismp.MET239ILEN/A
Swiss-ProtVAR_019216Polymorphismp.MET239LEUN/A
Swiss-ProtVAR_014788Polymorphismp.MET17VALN/A
Swiss-ProtVAR_014790Polymorphismp.MET217VALN/A
Swiss-ProtVAR_046142Diseasep.PHE309LEUAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_046137Diseasep.PRO47HISAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_014789Polymorphismp.PRO210LEUN/A
Swiss-ProtVAR_046139Diseasep.SER147ARGAromatic L-amino-acid decarboxylase deficiency (AADCD)
Swiss-ProtVAR_046140Diseasep.SER250PHEAromatic L-amino-acid decarboxylase deficiency (AADCD)



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