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Results for the Protein: P01225
120552

FSHB_HUMAN RecName: Full=Follitropin subunit beta; AltName: Full=Follicle-stimulating hormone beta subunit; Short=FSH-B; Short=FSH-beta; AltName: Full=Follitropin beta chain; Flags: Precursor

Known Diseases associated with this Protein:
  FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
  ISOLATED FOLLICLE-STIMULATING HORMONE DEFICIENCY (IFSHD)
3
1
2
0
2
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GHB - smart00068


Swiss-Prot Protein: P01225
Identical to: NP_001018090, NP_000501
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_033015Diseasep.CYS69GLYIsolated follicle-stimulating hormone deficiency (IFSHD)
Swiss-ProtVAR_012047Polymorphismp.SER20ILEN/A
OMIM136530.0002 Diseasep.CYS51GLYFOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
OMIM136530.0003 Diseasep.TYR76TERFOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED



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