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UniProtKB/Swiss-Prot P01137: Variant p.Arg25Pro

Transforming growth factor beta-1 proprotein
Gene: TGFB1
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Variant information Variant position: help 25
Type of variant: help LB/B
Residue change: help From Arginine (R) to Proline (P) at position 25 (R25P, p.Arg25Pro).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score: help -2
Polymorphism: help In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis than in controls.
Other resources: help


Sequence information Variant position: help 25
Protein sequence length: help 390
Location on the sequence: help GLRLLPLLLPLLWLLVLTPG R PAAGLSTCKTIDMELVKRKR
Residue conservation: help 
Human                         GLRLLPLLLPLLWLLVLTPGRPAAGLSTCKTIDMELVKRKR

                              GLRLLPLLLPLLRLLVLTPGRPAAGLSTCKTIDMELVKRKR

Mouse                         GLRLLPLLLPLPWLLVLTPGRPAAGLSTCKTIDMELVKRKR

Rat                           GLRLLPLLLPLPWLLVLTPGRPAAGLSTCKTIDMELVKRKR

Pig                           GLRLLPLLLPLLWLLVLTPGRPAAGLSTCKTIDMELVKRKR

Bovine                        GLRLLPLLLPLLWLLMLTPGRPVAGLSTCKTIDMELVKRKR

Sheep                         GLRLLPLLLPLLWLLMLTPGRPVAGLSTCKTIDMELVKRKG

Horse                         GLRLLPLLLPLLWLLVLTPGRPAAGLSTCKTIDMELVKRKR

Chicken                       ---------PLLALLLLLGA--ARALSTCQRLDLEAAKKKR

Xenopus laevis                ----MEVLWMLLVLLVLHLSSLAMSLSTCKAVDMEEVRKRR
Sequence annotation in neighborhood: help
TypePositionsDescription
Signal peptide 1 – 29
Disulfide bond 33 – 33 Interchain (with C-1359 or C-1384 in LTBP1); in inactive form
Mutagenesis 33 – 33 C -> S. Abolishes interchain disulfide bond with LTBP1 and/or LRRC32, and subsequent regulation of activation of TGF-beta-1.



Literature citations
Human transforming growth factor-beta complementary DNA sequence and expression in normal and transformed cells.
Derynck R.; Jarrett J.A.; Chen E.Y.; Eaton D.H.; Bell J.R.; Assoian R.K.; Roberts A.B.; Sporn M.B.; Goeddel D.V.;
Nature 316:701-705(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LEU-10 AND PRO-25;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.