Variant position: 223 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 TVAVLILAYFRRLHCTRNYI HMHLFLSFMLRAVSIFVKDAV
Mouse TVAVLILAYFRRLHCTRNYI HMHMFLSFMLRAASIFVKDAV
Rat TVAVLILAYFRRLHCTRNYI HMHMFLSFMLRAASIFVKDAV
Pig TVAVLILAYFRRLHCTRNYI HMHLFLSFMLRAVSIFVKDAV
Bovine TVAVLILAYFRRLHCTRNYI HMHLFLSFMLRAVSIFVKDAV
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
220 – 239 Helical; Name=2
219 – 245
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
Schipani E.; Kruse K.; Jueppner H.;
Cited for: VARIANT MCDJ ARG-223;
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;
Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia.
Shimomura-Kuroki J.; Farooq M.; Sekimoto T.; Amizuka N.; Shimomura Y.;
Cited for: VARIANT MCDJ ARG-223; CHARACTERIZATION OF VARIANT MCDJ ARG-223; GLYCOSYLATION; FUNCTION; SUBUNIT;
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