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UniProtKB/Swiss-Prot Q03431: Variant p.Thr410Pro

Parathyroid hormone/parathyroid hormone-related peptide receptor
Gene: PTH1R
Variant information

Variant position:  410
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 Threonine (T) to Proline (P) at position 410 (T410P, p.Thr410Pro).
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 medium size and polar (T) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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 MCDJ; constitutively activated.
Any additional useful information about the variant.

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



Sequence information

Variant position:  410
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:   RETNAGRCDTRQQYRKLLKS  T LVLMPLFGVHYIVFMATPYT
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                         RETNAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYT

                              RETNAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYT

Mouse                         RETNAGRCDTRQQYRKLLRSTLVLVPLFGVHYTVFMALPYT

Rat                           RETNAGRCDTRQQYRKLLRSTLVLVPLFGVHYTVFMALPYT

Pig                           RETNAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYT

Bovine                        RETNAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYT

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 27 – 593 Parathyroid hormone/parathyroid hormone-related peptide receptor
Transmembrane 410 – 428 Helical; Name=6
Helix 400 – 411


Literature citations

Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.
Schipani E.; Langman C.B.; Parfitt A.M.; Jensen G.S.; Kikuchi S.; Kooh S.W.; Cole W.G.; Jueppner H.;
N. Engl. J. Med. 335:708-714(1996)
Cited for: VARIANTS MCDJ ARG-223 AND PRO-410;

Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.
Schipani E.; Jensen G.S.; Pincus J.; Nissenson R.A.; Gardella T.J.; Jueppner H.;
Mol. Endocrinol. 11:851-858(1997)
Cited for: CHARACTERIZATION OF VARIANTS MCDJ ARG-223 AND PRO-410;

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.