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Results for the Protein: P21397
113978

AOFA_HUMAN RecName: Full=Amine oxidase [flavin-containing] A; AltName: Full=Monoamine oxidase type A; Short=MAO-A

Known Diseases associated with this Protein:
  BRUNNER SYNDROME
1
5
1
1
4
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Default View:

COG1231 - COG1231
COG1233 - COG1233
HemY - COG1232
Amino_oxidase - pfam01593


Swiss-Prot Protein: P21397
Identical to: NP_000231
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1231COG12312e-761466
COG1233COG12331.5e-0511468
HemYCOG12320.0001114461
Amino_oxidasepfam015936.2e-8323460

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs58524323 Polymorphismp.ARG172GLNN/A
Swiss-ProtVAR_036545Polymorphismp.ASP15GLUN/A
Swiss-ProtVAR_064573Polymorphismp.GLU188LYSN/A
Swiss-ProtVAR_014796Polymorphismp.LYS520ARGN/A
Swiss-ProtVAR_014795Polymorphismp.PHE314VALN/A
OMIM309850.0001 Diseasep.GLN296TERBRUNNER SYNDROME



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