UniProtKB/Swiss-Prot P01137: Variant p.Pro10Leu

Transforming growth factor beta-1 proprotein
Gene: TGFB1
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Variant information Variant position:

10 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Proline (P) to Leucine (L) at position 10 (P10L, p.Pro10Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis than in controls. Additional information on the polymorphism described.
Variant description:

Associated with lower bone mineral density and higher frequency of vertebral fractures in Japanese post-menopausal women. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1800470 [ dbSNP | Ensembl ]

Sequence information Variant position:

10 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

390 The length of the canonical sequence.
Location on the sequence:

MPPSGLRLL P LLLPLLWLLVLTPGRPAAGL The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         MPPSGLRLLPLLLPLLWLLVLTPGRPAAGL

                              MPPSGLRLLPLLLPLLRLLVLTPGRPAAGL

Mouse                         MPPSGLRLLPLLLPLPWLLVLTPGRPAAGL

Rat                           MPPSGLRLLPLLLPLPWLLVLTPGRPAAGL

Pig                           MPPSGLRLLPLLLPLLWLLVLTPGRPAAGL

Bovine                        MPPSGLRLLPLLLPLLWLLMLTPGRPVAGL

Sheep                         MPPSGLRLLPLLLPLLWLLMLTPGRPVAGL

Horse                         MPPSGLRLLPLLLPLLWLLVLTPGRPAAGL

Chicken                       MDPS---------PLLALLLLLGA--ARAL

Xenopus laevis                --------MEVLWMLLVLLVLHLSSLAMSL

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Signal peptide	1 – 29

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; Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women.
Yamada Y.; Miyauchi A.; Goto J.; Takagi Y.; Okuizumi H.; Kanematsu M.; Hase M.; Takai H.; Harada A.; Ikeda K.;
J. Bone Miner. Res. 13:1569-1576(1998)
Cited for: VARIANT LEU-10; A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.
Watanabe Y.; Kinoshita A.; Yamada T.; Ohta T.; Kishino T.; Matsumoto N.; Ishikawa M.; Niikawa N.; Yoshiura K.;
J. Hum. Genet. 47:478-483(2002)
Cited for: VARIANT LEU-10;

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.