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Results for the Protein: P61812
48429157

TGFB2_HUMAN RecName: Full=Transforming growth factor beta-2; Short=TGF-beta-2; AltName: Full=BSC-1 cell growth inhibitor; AltName: Full=Cetermin; AltName: Full=Glioblastoma-derived T-cell suppressor factor; Short=G-TSF; AltName: Full=Polyergin; Contains: RecName: Full=Latency-associated peptide; Short=LAP; Flags: Precursor

Known Diseases associated with this Protein:
  LOEYS-DIETZ SYNDROME 4 (LDS4)
  LOEYS-DIETZ SYNDROME, TYPE 4
5
2
2
0
5
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Default View:

TGFb_propeptide - pfam00688
TGF_beta - pfam00019
TGFB - smart00204


Swiss-Prot Protein: P61812
Identical to: NP_003229
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TGFb_propeptidepfam006885.3e-348284
TGF_betapfam000198.5e-51314414
TGFBsmart002041.1e-38317414

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068933Diseasep.ARG302CYSLoeys-Dietz syndrome 4 (LDS4)
Swiss-ProtVAR_012708Polymorphismp.ARG91HISN/A
Swiss-ProtVAR_068932Diseasep.ARG299TRPLoeys-Dietz syndrome 4 (LDS4)
Swiss-ProtVAR_068934Diseasep.PRO338HISLoeys-Dietz syndrome 4 (LDS4)
Swiss-ProtVAR_018923Polymorphismp.VAL207LEUN/A
OMIM190220.0004 Diseasep.CYS201TERLOEYS-DIETZ SYNDROME, TYPE 4
OMIM190220.0001 Diseasep.PRO338HISLOEYS-DIETZ SYNDROME, TYPE 4



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