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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q01726: Variant p.Leu93Arg

Melanocyte-stimulating hormone receptor
Gene: MC1R
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Variant information Variant position: help 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Leucine (L) to Arginine (R) at position 93 (L93R, p.Leu93Arg). 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 (L) to large size and basic (R) 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 Loss-of-function mutation abolishing agonist binding. Any additional useful information about the variant.


Sequence information Variant position: help 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 317 The length of the canonical sequence.
Location on the sequence: help MYCFICCLALSDLLVSGSNV L ETAVILLLEAGALVARAAVL 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                         MYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVL

Gorilla                       MYCFICCLALSDLLVSGSNVVDT-LLLLLEAGALAARAAVL

                              MYYFIGCLAVSDLLVSVTNVLETAVMLLVEAGALAAQAAVV

Rhesus macaque                MYCFICCLALSDLLVSGSNMLETAVTLLLEAGALVARAAVV

Chimpanzee                    MYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVL

Mouse                         MYYFICCLALSDLMVSVSIVLETTIILLLEAGILVARVALV

Pig                           MYYFVCCLAVSDLLVSVSNVLETAVLLLLEAGALAAQAAVV

Bovine                        MYYFICCLAVSDLLVSVSNVLETAVMLLLEAGVLATQAAVV

Goat                          MYYFICCLAMSDLLVSVSNVLETAVMLLLEAGVLATRAAVV

Sheep                         MYYFICCLAMSDLLVSVSNVLETAVMLLLEAGVLATRAAVV

Cat                           MYYFICCLAVSDLLVSVSSVLETAVMLLLEAGALAGRAAVV

Horse                         MYYFICCLAVSDLLVSMSNVLEMAILLLLEAGVLATQASVL

Chicken                       TYYFICCLAVSDMLVSVSNLAKTLFMLLMEHGVLVIRASIV

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 – 317 Melanocyte-stimulating hormone receptor
Transmembrane 73 – 93 Helical; Name=2
Helix 72 – 102



Literature citations
Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function.
Sanchez Mas J.; Olivares Sanchez C.; Ghanem G.; Haycock J.; Lozano Teruel J.A.; Garcia-Borron J.C.; Jimenez-Cervantes C.;
Eur. J. Biochem. 269:6133-6141(2002)
Cited for: VARIANTS ARG-93; HIS-142 AND CYS-151; CHARACTERIZATION OF VARIANTS ARG-93 AND CYS-151;
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.