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Results for the Protein: P49459
33518639

UBE2A_HUMAN RecName: Full=Ubiquitin-conjugating enzyme E2 A; AltName: Full=RAD6 homolog A; Short=HR6A; Short=hHR6A; AltName: Full=Ubiquitin carrier protein A; AltName: Full=Ubiquitin-protein ligase A

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO-TYPE (MRXSN)
5
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3
0
2
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Default View:

COG5078 - COG5078
UBCc - cd00195
UBCc - smart00212
UQ_con - pfam00179


Swiss-Prot Protein: P49459
Identical to: NP_003327
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
UBCccd001951.2e-766145
COG5078COG50782e-821151
UQ_conpfam001798.2e-818145
UBCcsmart002129e-737149

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066627Diseasep.ARG11GLNMental retardation, X-linked, syndromic, Nascimento-type (MRXSN)
Swiss-ProtVAR_066628Diseasep.GLY23ARGMental retardation, X-linked, syndromic, Nascimento-type (MRXSN)
OMIM312180.0003 Diseasep.ARG11GLNMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
OMIM312180.0001 Diseasep.GLN128TERMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
OMIM312180.0002 Diseasep.GLY23ARGMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE



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