Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03431: Variant p.Pro132Leu

Parathyroid hormone/parathyroid hormone-related peptide receptor
Gene: PTH1R
Feedback?
Variant information Variant position: help 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Proline (P) to Leucine (L) at position 132 (P132L, p.Pro132Leu). 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: help 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: help -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
Variant description: help In BOCD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 593 The length of the canonical sequence.
Location on the sequence: help WDHILCWPLGAPGEVVAVPC P DYIYDFNHKGHAYRRCDRNG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         WDHILCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNG

                              WDHILCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNG

Mouse                         WDNIVCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNG

Rat                           WDNIVCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNG

Pig                           WDHILCWPLGAPGEVVAMPCPDYIYDFNHKGHAYRRCDRNG

Bovine                        WDHILCWPLGAPGEVVAMPCPDYIYDFNHKGHAYRRCDRNG
Sequence annotation in neighborhood: help 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 27 – 593 Parathyroid hormone/parathyroid hormone-related peptide receptor
Topological domain 27 – 188 Extracellular
Glycosylation 151 – 151 N-linked (GlcNAc...) asparagine
Disulfide bond 108 – 148
Disulfide bond 131 – 170
Mutagenesis 135 – 135 I -> K. Abolishes hormone binding and homodimerization.
Mutagenesis 137 – 137 D -> A. Abolishes hormone binding. No effect on homodimerization.



Literature citations
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;
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.