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UniProtKB/Swiss-Prot P13497: Variant p.Phe249Leu

Bone morphogenetic protein 1
Gene: BMP1
Variant information

Variant position:  249
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Phenylalanine (F) to Leucine (L) at position 249 (F249L, p.Phe249Leu).
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:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Variant description:  In OI13; leads to a protein with deficient procollagen I C-terminal propeptide proteolytic activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  249
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  986
The length of the canonical sequence.

Location on the sequence:   DRDRHVSIVRENIQPGQEYN  F LKMEPQEVESLGETYDFDSI
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                         DRDRHVSIVRENIQPGQEYNFLKMEPQEVESLGETYDFDSI

Mouse                         DRDRHVSIVRENIQPGQEYNFLKMEVQEVESLGETYDFDSI

Xenopus laevis                DRDDHVSIIRENIQPGQEYNFLKMEPEEVESLGETYDFDSI

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.

TypePositionsDescription
Chain 121 – 986 Bone morphogenetic protein 1
Domain 121 – 320 Peptidase M12A
Disulfide bond 163 – 319
Alternative sequence 245 – 302 QEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIGQR -> VLHSSLLLLSCGSRNGASFPCSLESSTHQALCWTGLFLRPSPFPRLPLAAPRTLRAGV. In isoform BMP1-4.
Helix 246 – 249


Literature citations

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
Martinez-Glez V.; Valencia M.; Caparros-Martin J.A.; Aglan M.; Temtamy S.; Tenorio J.; Pulido V.; Lindert U.; Rohrbach M.; Eyre D.; Giunta C.; Lapunzina P.; Ruiz-Perez V.L.;
Hum. Mutat. 33:343-350(2012)
Cited for: VARIANT OI13 LEU-249; CHARACTERIZATION OF VARIANT OI13 LEU-249;

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.