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Results for the Protein: Q06787
544328

FMR1_HUMAN RecName: Full=Fragile X mental retardation protein 1; Short=FMRP; Short=Protein FMR-1

Known Diseases associated with this Protein:
  FRAGILE X MENTAL RETARDATION SYNDROME
  FRAGILE X SYNDROME (FRAX)
3
3
2
1
3
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Default View:

Agenet - pfam05641
KH - smart00322
KH_1 - pfam00013
KH-I - cd00105
FXR1P_C - pfam12235


Swiss-Prot Protein: Q06787
Identical to: NP_002015
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
KH-Icd001052.6e-05220280
KH_1pfam000135.9e-08220279
KH_1pfam000132e-05283333
Agenetpfam056411.2e-0959120
KHsmart003222.5e-05217284
FXR1P_Cpfam122357.3e-77427577

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs29281 Polymorphismp.ALA145SERN/A
Swiss-ProtVAR_064507Polymorphismp.ARG138GLNN/A
Swiss-ProtVAR_005235Polymorphismp.ARG546HISN/A
Swiss-ProtVAR_005234Diseasep.ILE304ASNFragile X syndrome (FRAX)
OMIM309550.0001 Diseasep.ILE304ASNFRAGILE X MENTAL RETARDATION SYNDROME
OMIM309550.0005 Diseasep.SER27TERFRAGILE X MENTAL RETARDATION SYNDROME



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