Results for the protein: NP

Results for the Protein: NP_000651

63025222

7040

TGFB1

NCBI

transforming growth factor beta-1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  BREAST CANCER, INVASIVE, SUSCEPTIBILITY TO, INCLUDED
  CAMURATI-ENGELMANN DISEASE
  CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF

7

3

7

3

0

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Default View: TGFb_propeptide - pfam00688 TGF_beta - pfam00019 TGFB - smart00204	RefSeq Protein: NP_000651 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TGF_beta	pfam00019	2.2e-49	290	390
TGFB	smart00204	1e-42	293	390

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1800471	Polymorphism	p.ARG25PRO	N/A
dbSNP	rs1800470	Polymorphism	p.PRO10LEU	N/A
dbSNP	rs1800472	Polymorphism	p.THR263ILE	N/A
OMIM	190180.0003	Disease	p.ARG218CYS	CAMURATI-ENGELMANN DISEASE
OMIM	190180.0002	Disease	p.ARG218HIS	CAMURATI-ENGELMANN DISEASE
OMIM	190180.0005	Disease	p.CYS223ARG	CAMURATI-ENGELMANN DISEASE
OMIM	190180.0001	Disease	p.CYS225ARG	CAMURATI-ENGELMANN DISEASE
OMIM	190180.0006	Disease	p.CYS223GLY	CAMURATI-ENGELMANN DISEASE
OMIM	190180.0007	Disease	p.LEU10PRO	CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF\|\|BREAST CANCER, INVASIVE, SUSCEPTIBILITY TO, INCLUDED
OMIM	190180.0004	Disease	p.TYR81HIS	CAMURATI-ENGELMANN DISEASE

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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