Results for the protein: P43026

Results for the Protein: P43026

20141384

8200

GDF5

NCBI, UniProt

GDF5_HUMAN RecName: Full=Growth/differentiation factor 5; Short=GDF-5; AltName: Full=Cartilage-derived morphogenetic protein 1; Short=CDMP-1; AltName: Full=Radotermin; Flags: Precursor

Known Diseases associated with this Protein:
  ACROMESOMELIC CHONDRODYSPLASIA, GREBE TYPE (AMDG)
  BRACHYDACTYLY A1, C (BDA1C)
  BRACHYDACTYLY A2 (BDA2)
  BRACHYDACTYLY C (BDC)
  BRACHYDACTYLY, TYPE A1, C
  BRACHYDACTYLY, TYPE A2
  BRACHYDACTYLY, TYPE A2, INCLUDED
  BRACHYDACTYLY, TYPE C
  CHONDRODYSPLASIA, GREBE TYPE
  DU PAN SYNDROME (DPS)
  FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
  MULTIPLE SYNOSTOSES SYNDROME 2
  MULTIPLE SYNOSTOSES SYNDROME 2 (SYNS2)
  MULTIPLE SYNOSTOSES SYNDROME 2, INCLUDED
  SYMPHALANGISM, PROXIMAL 1B (SYM1B)
  SYMPHALANGISM, PROXIMAL, 1B

26

4

13

3

14

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: TGFb_propeptide - pfam00688 TGF_beta - pfam00019 TGFB - smart00204	Swiss-Prot Protein: P43026 Identical to: NP_000548 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TGF_beta	pfam00019	1.6e-55	397	501
TGFB	smart00204	1.3e-67	400	501

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34534075	Polymorphism	p.ARG163CYS	N/A
Swiss-Prot	VAR_064416	Disease	p.ARG399CYS	Brachydactyly A1, C (BDA1C)
Swiss-Prot	VAR_054910	Disease	p.ARG378GLN	Du Pan syndrome (DPS)
Swiss-Prot	VAR_046743	Disease	p.ARG380GLN	Brachydactyly A2 (BDA2)
Swiss-Prot	VAR_037977	Polymorphism	p.ARG163GLY	N/A
Swiss-Prot	VAR_026545	Disease	p.ARG438LEU	Symphalangism, proximal 1B (SYM1B)
Swiss-Prot	VAR_017407	Disease	p.CYS400TYR	Acromesomelic chondrodysplasia, Grebe type (AMDG)
Swiss-Prot	VAR_037983	Disease	p.GLU491LYS	Symphalangism, proximal 1B (SYM1B)
Swiss-Prot	VAR_037981	Disease	p.HIS440LEU	Du Pan syndrome (DPS)
Swiss-Prot	VAR_054909	Disease	p.LEU373ARG	Symphalangism, proximal 1B (SYM1B)
Swiss-Prot	VAR_017408	Disease	p.LEU441PRO	Du Pan syndrome (DPS)
Swiss-Prot	VAR_037978	Disease	p.MET173VAL	Brachydactyly C (BDC)
dbSNP	rs61754581	Polymorphism	p.PRO166HIS	N/A
Swiss-Prot	VAR_054911	Disease	p.PRO436THR	Du Pan syndrome (DPS)
dbSNP	rs224331	Polymorphism	p.SER276ALA	N/A
Swiss-Prot	VAR_037982	Disease	p.SER475ASN	Multiple synostoses syndrome 2 (SYNS2)
Swiss-Prot	VAR_037980	Disease	p.SER439THR	Du Pan syndrome (DPS)
OMIM	601146.0020	Disease	p.ARG399CYS	BRACHYDACTYLY, TYPE A1, C
OMIM	601146.0018	Disease	p.ARG378GLN	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
OMIM	601146.0021	Disease	p.ARG380GLN	BRACHYDACTYLY, TYPE A2
OMIM	601146.0011	Disease	p.ARG438LEU	SYMPHALANGISM, PROXIMAL, 1B\|\|MULTIPLE SYNOSTOSES SYNDROME 2, INCLUDED
OMIM	601146.0002	Disease	p.ARG301TER	BRACHYDACTYLY, TYPE C
OMIM	601146.0003	Disease	p.CYS400TYR	CHONDRODYSPLASIA, GREBE TYPE
OMIM	601146.0014	Disease	p.GLU491LYS	SYMPHALANGISM, PROXIMAL, 1B
OMIM	601146.0017	Disease	p.LEU373ARG	SYMPHALANGISM, PROXIMAL, 1B
OMIM	601146.0005	Disease	p.LEU441PRO	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY\|\|BRACHYDACTYLY, TYPE A2, INCLUDED
OMIM	601146.0008	Disease	p.MET173VAL	BRACHYDACTYLY, TYPE C
OMIM	601146.0019	Disease	p.PRO436THR	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
OMIM	601146.0013	Disease	p.SER475ASN	MULTIPLE SYNOSTOSES SYNDROME 2
OMIM	601146.0016	Disease	p.TYR487TER	BRACHYDACTYLY, TYPE C

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