Variant position: 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 593 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 WDHILCWPLGAPGEVVAVPC PDYIYDFNHKGHAYRRCDRNG
Mouse WDNIVCWPLGAPGEVVAVPC PDYIYDFNHKGHAYRRCDRNG
Rat WDNIVCWPLGAPGEVVAVPC PDYIYDFNHKGHAYRRCDRNG
Pig WDHILCWPLGAPGEVVAMPC PDYIYDFNHKGHAYRRCDRNG
Bovine WDHILCWPLGAPGEVVAMPC PDYIYDFNHKGHAYRRCDRNG
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
27 – 593 Parathyroid hormone/parathyroid hormone-related peptide receptor
27 – 188 Extracellular
151 – 151 N-linked (GlcNAc...) asparagine
108 – 148
131 – 170
135 – 135 I -> K. Abolishes hormone binding and homodimerization.
137 – 137 D -> A. Abolishes hormone binding. No effect on homodimerization.
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
Zhang P.; Jobert A.-S.; Couvineau A.; Silve C.;
J. Clin. Endocrinol. Metab. 83:3365-3368(1998)
Cited for: VARIANT BOCD LEU-132;
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