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Results for the Protein: Q13620
296439468

CUL4B_HUMAN RecName: Full=Cullin-4B; Short=CUL-4B

Known Diseases associated with this Protein:
  ABNORMAL GAIT
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, 15 (MRXS15)
  MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND
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2
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4
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Default View:

COG5647 - COG5647
Cullin - pfam00888
CULLIN - smart00182
Cullin_Nedd8 - pfam10557


Swiss-Prot Protein: Q13620
Identical to: NP_003579
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5647COG56475.4e-161198913
Cullinpfam008889.6e-219217815
CULLINsmart001821.4e-68596736
Cullin_Nedd8pfam105576.4e-39842907

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032274Diseasep.ARG572CYSMental retardation, X-linked, syndromic, 15 (MRXS15)
Swiss-ProtVAR_032272Polymorphismp.LEU103PRON/A
Swiss-ProtVAR_032273Polymorphismp.THR213ILEN/A
Swiss-ProtVAR_032275Diseasep.VAL745ALAMental retardation, X-linked, syndromic, 15 (MRXS15)
OMIM300304.0001 Diseasep.ARG572CYSMENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND||ABNORMAL GAIT
OMIM300304.0002 Diseasep.ARG388TERMENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND||ABNORMAL GAIT



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