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:
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 DRDRHVSIVRENIQPGQEYN FLKMEPQEVESLGETYDFDSI
Mouse DRDRHVSIVRENIQPGQEYN FLKMEVQEVESLGETYDFDSI
Xenopus laevis DRDDHVSIIRENIQPGQEYN FLKMEPEEVESLGETYDFDSI
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
121 – 986 Bone morphogenetic protein 1
121 – 320 Peptidase M12A
163 – 319
245 – 302 QEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIGQR -> VLHSSLLLLSCGSRNGASFPCSLESSTHQALCWTGLFLRPSPFPRLPLAAPRTLRAGV. In isoform BMP1-4.
246 – 249
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;
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