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Results for the Protein: P62913
51702795

RL11_HUMAN RecName: Full=60S ribosomal protein L11; AltName: Full=CLL-associated antigen KW-12

Known Diseases associated with this Protein:
  DIAMOND-BLACKFAN ANEMIA 7
  DIAMOND-BLACKFAN ANEMIA 7 (DBA7)
2
0
1
0
1
Tips:
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Default View:

RplE - COG0094
Ribosomal_L5 - pfam00281
Ribosomal_L5_C - pfam00673


Swiss-Prot Protein: P62913
Identical to: NP_000966
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ribosomal_L5pfam002812.4e-241063
Ribosomal_L5_Cpfam006731.7e-4367166

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_055448Diseasep.LEU20HISDiamond-Blackfan anemia 7 (DBA7)
OMIM604175.0001 Diseasep.ARG75TERDIAMOND-BLACKFAN ANEMIA 7



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