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Results for the Protein: P01270
131547
PTH

PTHY_HUMAN RecName: Full=Parathyroid hormone; Short=PTH; AltName: Full=Parathormone; AltName: Full=Parathyrin; Flags: Precursor

Known Diseases associated with this Protein:
  HYPERPARATHYROIDISM, PRIMARY
  HYPOPARATHYROIDISM, FAMILIAL ISOLATED
  HYPOPARATHYROIDISM, FAMILIAL ISOLATED (FIH)
5
0
3
0
2
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PTH - smart00087


Swiss-Prot Protein: P01270
Identical to: NP_000306
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PTHsmart000871.3e-223065

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_006047Diseasep.CYS18ARGHypoparathyroidism, familial isolated (FIH)
Swiss-ProtVAR_018464Diseasep.SER23PROHypoparathyroidism, familial isolated (FIH)
OMIM168450.0004 Diseasep.ARG83TERHYPERPARATHYROIDISM, PRIMARY
OMIM168450.0001 Diseasep.CYS18ARGHYPOPARATHYROIDISM, FAMILIAL ISOLATED
OMIM168450.0003 Diseasep.SER23PROHYPOPARATHYROIDISM, FAMILIAL ISOLATED



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