Variant position: 252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 332 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 TGAIRQGANMKGAITLTILI GVFVVCWAPFFLHLIFYISCP
Mouse TGTIRQGTNMKGAITLTILI GVFVVCWAPFFLHLLFYISCP
Rat TGTIRQGANMKGAITLTILI GVFVVCWAPFFLHLLFYISCP
Pig TGTIRQGANMKGAITLTILI GVFVVCWAPFFLHLIFYISCP
Bovine SGTIRQGANMKGAITLTILI GVFVVCWAPFFLHLIFYISCP
Zebrafish NGPIWQAANMKGAITITILL GVFVVCWAPFFLHLILMISCP
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
1 – 332 Melanocortin receptor 4
249 – 271 Helical; Name=6
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
Hinney A.; Schmidt A.; Nottebom K.; Heibult O.; Becker I.; Ziegler A.; Gerber G.; Sina M.; Gorg T.; Mayer H.; Siegfried W.; Fichter M.; Remschmidt H.; Hebebrand J.;
J. Clin. Endocrinol. Metab. 84:1483-1486(1999)
Cited for: VARIANTS OBESITY PHE-30; VAL-37; LEU-78; TRP-165; SER-252 AND THR-317; VARIANTS MET-112 AND LEU-251;
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