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Results for the Protein: P01222
311033515

TSHB_HUMAN RecName: Full=Thyrotropin subunit beta; AltName: Full=Thyroid-stimulating hormone subunit beta; Short=TSH-B; Short=TSH-beta; AltName: Full=Thyrotropin beta chain; AltName: INN=Thyrotropin alfa; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
3
1
3
0
1
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Default View:

GHB - smart00068
Cys_knot - pfam00007
GHB_like - cd00069


Swiss-Prot Protein: P01222
Identical to: NP_000540
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GHB_likecd000691.2e-6322125
Cys_knotpfam000073.7e-6019125
GHBsmart000684.3e-6618126

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054769Polymorphismp.THR14ALAN/A
OMIM188540.0004 Diseasep.GLN49TERHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
OMIM188540.0002 Diseasep.GLU12TERHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
OMIM188540.0001 Diseasep.GLY29ARGHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4



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