Variant position: 270 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 LKMEPQEVESLGETYDFDSI MHYARNTFSRGIFLDTIVPKY
Mouse LKMEVQEVESLGETYDFDSI MHYARNTFSRGIFLDTIVPKY
Xenopus laevis LKMEPEEVESLGETYDFDSI MHYARNTFSRGIFLDTILPKY
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.
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Cho S.Y.; Asharani P.V.; Kim O.H.; Iida A.; Miyake N.; Matsumoto N.; Nishimura G.; Ki C.S.; Hong G.; Kim S.J.; Sohn Y.B.; Park S.W.; Lee J.; Kwun Y.; Carney T.J.; Huh R.; Ikegawa S.; Jin D.K.;
Hum. Mutat. 36:191-195(2015)
Cited for: VARIANT OI13 VAL-270; CHARACTERIZATION OF VARIANT OI13 VAL-270;
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.