Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P32245: Variant p.Ile102Ser

Melanocortin receptor 4
Gene: MC4R
Feedback?
Variant information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Isoleucine (I) to Serine (S) at position 102 (I102S, p.Ile102Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (I) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In OBESITY; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 332 The length of the canonical sequence.
Location on the sequence: help FICSLAVADMLVSVSNGSET I VITLLNSTDTDAQSFTVNID 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         FICSLAVADMLVSVSNGSETIVITLLNSTD-TDAQSFTVNID

Mouse                         FICSLAVADMLVSVSNGSETIVITLLNSTD-TDAQSFTVNI

Rat                           FICSLAVADMLVSVSNGSETIVITLLNSTD-TDAQSFTVNI

Pig                           FICSLAVADMLVSVSNGSETIVITLLNSTD-TDAQSFTVNI

Bovine                        FICSLAVADMLVSVSNGSETIVITLLNSTD-TDAQSFTVDI

Zebrafish                     FICSLAVADLLVSVSNASETVVMALITGGNLTNRESIIKNM
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 332 Melanocortin receptor 4
Transmembrane 82 – 106 Helical; Name=2
Binding site 100 – 100
Binding site 122 – 122
Disulfide bond 40 – 279
Disulfide bond 84 – 84 Interchain
Mutagenesis 100 – 100 E -> A. Almost complete loss of alpha-MSH signaling.
Mutagenesis 122 – 122 D -> A. Loss of high-affinity ligand binding.
Mutagenesis 122 – 122 D -> N. About 50% loss of alpha-MSH signaling.
Helix 78 – 106



Literature citations
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.
Dubern B.; Clement K.; Pelloux V.; Froguel P.; Girardet J.-P.; Guy-Grand B.; Tounian P.;
J. Pediatr. 139:204-209(2001)
Cited for: VARIANTS OBESITY MET-50; CYS-58; SER-102 AND VAL-170; VARIANTS ILE-103 AND LEU-251;
Disclaimer: 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.