Variant position: 882 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1047 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 IYFSDIVGFTALSAESTPMQ VVTLLNDLYTCFDAIIDNFDV
Mouse IYFSDIVGFTALSAESTPMQ VVTLLNDLYTCFDAIIDNFDV
Rat IYFSDIVGFTALSAESTPMQ VVTLLNDLYTCFDAIIDNFDV
Bovine IYFSDIVGFTALSAESTPMQ VVTLLNDLYTCFDAIIDNFDV
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
23 – 1047 Atrial natriuretic peptide receptor 2
479 – 1047 Cytoplasmic
861 – 991 Guanylate cyclase
An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.
Miura K.; Namba N.; Fujiwara M.; Ohata Y.; Ishida H.; Kitaoka T.; Kubota T.; Hirai H.; Higuchi C.; Tsumaki N.; Yoshikawa H.; Sakai N.; Michigami T.; Ozono K.;
PLoS ONE 7:E42180-E42180(2012)
Cited for: INVOLVEMENT IN ECDM; VARIANT ECDM MET-882; CHARACTERIZATION OF VARIANT ECDM MET-882;
A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B.
Robinson J.W.; Dickey D.M.; Miura K.; Michigami T.; Ozono K.; Potter L.R.;
Cited for: CHARACTERIZATION OF VARIANT ECDM MET-882;
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.