Variant position: 11 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 MVNSTHRGMH TSLHLWNRSSYRLHSNASESL
Mouse MNSTHHHGMY TSLHLWNRSSYGLHGNASESL
Rat MNSTHHHGMY TSLHLWNRSSHGLHGNASESL
Pig MNSTHHHGMH TSLHFWNRSTYGLHSNASEPL
Bovine MNSTQPLGMH TSLHSWNRSAHGMPTNVSESL
Zebrafish MNTSHHHGLH ---HSFRNHSQGALPVGKPSH
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
1 – 43 Extracellular
3 – 3 N-linked (GlcNAc...) asparagine
17 – 17 N-linked (GlcNAc...) asparagine
26 – 26 N-linked (GlcNAc...) asparagine
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
Farooqi I.S.; Keogh J.M.; Yeo G.S.H.; Lank E.J.; Cheetham T.; O'Rahilly S.;
N. Engl. J. Med. 348:1085-1095(2003)
Cited for: VARIANTS OBESITY ALA-11; SER-62; ASP-97; LYS-125; GLN-165; THR-175; TYR-271; ARG-271 AND SER-316; VARIANTS ILE-103; MET-112 AND LEU-251; CHARACTERIZATION OF VARIANTS OBESITY ALA-11; SER-62; ASP-97; LYS-125; GLN-165; THR-175; TYR-271 AND SER-316; CHARACTERIZATION OF VARIANTS ILE-103; MET-112 AND LEU-251; FUNCTION;
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.