Results for the protein: Q13253

Results for the Protein: Q13253

15214099

9241

NOG

NCBI, UniProt

NOGG_HUMAN RecName: Full=Noggin; Flags: Precursor

Known Diseases associated with this Protein:
  BRACHYDACTYLY B2 (BDB2)
  BRACHYDACTYLY, TYPE B2
  BRACHYDACTYLY, TYPE B2, INCLUDED;;
  MULTIPLE SYNOSTOSES SYNDROME 1
  MULTIPLE SYNOSTOSES SYNDROME 1 (SYNS1)
  STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
  STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, INCLUDED
  SYMPHALANGISM, PROXIMAL 1A (SYM1A)
  SYMPHALANGISM, PROXIMAL, 1A
  SYMPHALANGISM, PROXIMAL, 1A, INCLUDED
  TARSAL-CARPAL COALITION SYNDROME
  TARSAL-CARPAL COALITION SYNDROME (TCC)

33

0

16

0

17

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Default View: Noggin - pfam05806	Swiss-Prot Protein: Q13253 Identical to: NP_005441 Default View:

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-Prot	VAR_036998	Disease	p.ALA36PRO	Brachydactyly B2 (BDB2)
Swiss-Prot	VAR_037000	Disease	p.ARG167GLY	Brachydactyly B2 (BDB2)
Swiss-Prot	VAR_018326	Disease	p.ARG204LEU	Tarsal-carpal coalition syndrome (TCC)
Swiss-Prot	VAR_064541	Disease	p.CYS232TRP	Multiple synostoses syndrome 1 (SYNS1)
Swiss-Prot	VAR_018325	Disease	p.CYS184TYR	Symphalangism, proximal 1A (SYM1A)
Swiss-Prot	VAR_036999	Disease	p.GLU48LYS	Brachydactyly B2 (BDB2)
Swiss-Prot	VAR_011362	Disease	p.GLY189CYS	Symphalangism, proximal 1A (SYM1A)
Swiss-Prot	VAR_011364	Disease	p.ILE220ASN	Symphalangism, proximal 1A (SYM1A)
Swiss-Prot	VAR_036997	Disease	p.PRO35ALA	Brachydactyly B2 (BDB2)
Swiss-Prot	VAR_011361	Disease	p.PRO35ARG	Tarsal-carpal coalition syndrome (TCC)
Swiss-Prot	VAR_011367	Disease	p.PRO223LEU	Symphalangism, proximal 1A (SYM1A)
Swiss-Prot	VAR_037001	Disease	p.PRO187SER	Brachydactyly B2 (BDB2)
Swiss-Prot	VAR_018324	Disease	p.PRO35SER	Symphalangism, proximal 1A (SYM1A)
Swiss-Prot	VAR_037605	Disease	p.TRP205CYS	Symphalangism, proximal 1A (SYM1A)
Swiss-Prot	VAR_011363	Disease	p.TRP217GLY	Multiple synostoses syndrome 1 (SYNS1)
Swiss-Prot	VAR_011366	Disease	p.TYR222ASP	Symphalangism, proximal 1A (SYM1A)
Swiss-Prot	VAR_011365	Disease	p.TYR222CYS	Tarsal-carpal coalition syndrome (TCC)
OMIM	602991.0018	Disease	p.ARG167GLY	BRACHYDACTYLY, TYPE B2
OMIM	602991.0006	Disease	p.ARG204LEU	TARSAL-CARPAL COALITION SYNDROME
OMIM	602991.0019	Disease	p.CYS232TRP	MULTIPLE SYNOSTOSES SYNDROME 1
OMIM	602991.0009	Disease	p.CYS184TYR	SYMPHALANGISM, PROXIMAL, 1A
OMIM	602991.0013	Disease	p.GLN110TER	STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
OMIM	602991.0005	Disease	p.GLY189CYS	SYMPHALANGISM, PROXIMAL, 1A
OMIM	602991.0010	Disease	p.LEU129TER	SYMPHALANGISM, PROXIMAL, 1A
OMIM	602991.0017	Disease	p.PRO35ALA	BRACHYDACTYLY, TYPE B2
OMIM	602991.0007	Disease	p.PRO35ARG	TARSAL-CARPAL COALITION SYNDROME\|\|SYMPHALANGISM, PROXIMAL, 1A, INCLUDED
OMIM	602991.0004	Disease	p.PRO223LEU	SYMPHALANGISM, PROXIMAL, 1A
OMIM	602991.0012	Disease	p.PRO35SER	SYMPHALANGISM, PROXIMAL, 1A\|\|BRACHYDACTYLY, TYPE B2, INCLUDED;;\|\|STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, INCLUDED
OMIM	602991.0016	Disease	p.TRP205CYS	MULTIPLE SYNOSTOSES SYNDROME 1
OMIM	602991.0003	Disease	p.TRP217GLY	MULTIPLE SYNOSTOSES SYNDROME 1
OMIM	602991.0015	Disease	p.TRP205TER	MULTIPLE SYNOSTOSES SYNDROME 1
OMIM	602991.0002	Disease	p.TYR222ASP	SYMPHALANGISM, PROXIMAL, 1A
OMIM	602991.0001 602991.0008	Disease	p.TYR222CYS	TARSAL-CARPAL COALITION SYNDROME\|\|SYMPHALANGISM, PROXIMAL, 1A, INCLUDED

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.

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