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:
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 RETNAGRCDTRQQYRKLLKS TLVLMPLFGVHYIVFMATPYT
Mouse RETNAGRCDTRQQYRKLLRS TLVLVPLFGVHYTVFMALPYT
Rat RETNAGRCDTRQQYRKLLRS TLVLVPLFGVHYTVFMALPYT
Pig RETNAGRCDTRQQYRKLLKS TLVLMPLFGVHYIVFMATPYT
Bovine RETNAGRCDTRQQYRKLLKS TLVLMPLFGVHYIVFMATPYT
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
410 – 428 Helical; Name=6
400 – 411
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.
Bastepe M.; Raas-Rothschild A.; Silver J.; Weissman I.; Wientroub S.; Jueppner H.; Gillis D.;
J. Clin. Endocrinol. Metab. 89:3595-3600(2004)
Cited for: VARIANT MCDJ ARG-410; CHARACTERIZATION OF VARIANT MCDJ ARG-410;
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