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Results for the Protein: P46777
81175191

RL5_HUMAN RecName: Full=60S ribosomal protein L5

Known Diseases associated with this Protein:
  DIAMOND-BLACKFAN ANEMIA 6
  DIAMOND-BLACKFAN ANEMIA 6 (DBA6)
4
1
2
0
3
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Default View:

RplR - COG0256
Ribosomal_L18p - pfam00861
Ribosomal_L18_L5e - cd00432


Swiss-Prot Protein: P46777
Identical to: NP_000960
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RplRCOG02568.2e-4314173
Ribosomal_L18_L5ecd004321.6e-6931171
Ribosomal_L18ppfam008613.2e-7726173

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_055451Diseasep.ALA285VALDiamond-Blackfan anemia 6 (DBA6)
Swiss-ProtVAR_055450Diseasep.GLY140SERDiamond-Blackfan anemia 6 (DBA6)
Swiss-ProtVAR_052009Polymorphismp.TYR210CYSN/A
OMIM603634.0001 Diseasep.ARG23TERDIAMOND-BLACKFAN ANEMIA 6
OMIM603634.0002 Diseasep.GLY140SERDIAMOND-BLACKFAN ANEMIA 6



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