Results for the protein: Q03431

Results for the Protein: Q03431

417555

5745

PTH1R

NCBI, UniProt

PTH1R_HUMAN RecName: Full=Parathyroid hormone/parathyroid hormone-related peptide receptor; AltName: Full=PTH/PTHrP type I receptor; Short=PTH/PTHr receptor; AltName: Full=Parathyroid hormone 1 receptor; Short=PTH1 receptor; Flags: Precursor

Known Diseases associated with this Protein:
  CHONDRODYSPLASIA BLOMSTRAND TYPE (BOCD)
  CHONDRODYSPLASIA, BLOMSTRAND TYPE
  EIKEN SYNDROME
  ENCHONDROMATOSIS MULTIPLE (ENCHOM)
  FAILURE OF TOOTH ERUPTION, PRIMARY
  JANSEN METAPHYSEAL CHONDRODYSPLASIA (JMC)
  METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE

14

1

8

1

6

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: HormR - smart00008 HRM - pfam02793 7tm_2 - pfam00002	Swiss-Prot Protein: Q03431 Identical to: NP_001171673, NP_000307 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
7tm_2	pfam00002	5.1e-143	184	455
HormR	smart00008	4.9e-27	104	179

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016063	Disease	p.ARG150CYS	Enchondromatosis multiple (ENCHOM)
dbSNP	rs77048718	Polymorphism	p.GLU546LYS	N/A
Swiss-Prot	VAR_003582	Disease	p.HIS223ARG	Jansen metaphyseal chondrodysplasia (JMC)
Swiss-Prot	VAR_016064	Disease	p.ILE458ARG	Jansen metaphyseal chondrodysplasia (JMC)
Swiss-Prot	VAR_016062	Disease	p.PRO132LEU	Chondrodysplasia Blomstrand type (BOCD)
Swiss-Prot	VAR_038811	Disease	p.THR410ARG	Jansen metaphyseal chondrodysplasia (JMC)
Swiss-Prot	VAR_003583	Disease	p.THR410PRO	Jansen metaphyseal chondrodysplasia (JMC)
OMIM	168468.0010	Disease	p.ARG104TER	CHONDRODYSPLASIA, BLOMSTRAND TYPE
OMIM	168468.0009	Disease	p.ARG485TER	EIKEN SYNDROME
OMIM	168468.0014	Disease	p.GLU155TER	FAILURE OF TOOTH ERUPTION, PRIMARY
OMIM	168468.0001	Disease	p.HIS223ARG	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
OMIM	168468.0006	Disease	p.ILE458ARG	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
OMIM	168468.0004	Disease	p.PRO132LEU	CHONDRODYSPLASIA, BLOMSTRAND TYPE
OMIM	168468.0008	Disease	p.THR410ARG	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
OMIM	168468.0002	Disease	p.THR410PRO	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258