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Results for the Protein: NP_000651
63025222

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
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3
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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 ↕
TGFb_propeptidepfam006881.2e-5417261
TGF_betapfam000192.2e-49290390
TGFBsmart002041e-42293390

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1800471 Polymorphismp.ARG25PRON/A
dbSNPrs1800470 Polymorphismp.PRO10LEUN/A
dbSNPrs1800472 Polymorphismp.THR263ILEN/A
OMIM190180.0003 Diseasep.ARG218CYSCAMURATI-ENGELMANN DISEASE
OMIM190180.0002 Diseasep.ARG218HISCAMURATI-ENGELMANN DISEASE
OMIM190180.0005 Diseasep.CYS223ARGCAMURATI-ENGELMANN DISEASE
OMIM190180.0001 Diseasep.CYS225ARGCAMURATI-ENGELMANN DISEASE
OMIM190180.0006 Diseasep.CYS223GLYCAMURATI-ENGELMANN DISEASE
OMIM190180.0007 Diseasep.LEU10PROCYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF||BREAST CANCER, INVASIVE, SUSCEPTIBILITY TO, INCLUDED
OMIM190180.0004 Diseasep.TYR81HISCAMURATI-ENGELMANN DISEASE



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