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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q01726: Variant p.Cys289Arg

Melanocyte-stimulating hormone receptor
Gene: MC1R
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Variant information Variant position: help 289 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 Cysteine (C) to Arginine (R) at position 289 (C289R, p.Cys289Arg). 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 polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 289 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 EHPTCGCIFKNFNLFLALII C NAIIDPLIYAFHSQELRRTL 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                         EHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELRRTL

Gorilla                       EHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELRRTL

                              QHPICGCVFQNFNLFLTLIICNSIIDPFIYAFRSQELRKTL

Rhesus macaque                QHPTCSCIFKNFNLFLALIICNAIIDPLIYAFRSQELRRTL

Chimpanzee                    EHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELRRTL

Mouse                         QHPTCSCIFKNFNLFLLLIVLSSTVDPLIYAFRSQELRMTL

Pig                           QHPTCGCVFKNVNLFLALVICNSIVDPLIYAFRSQELRKTL

Bovine                        QHPTCGCIFKNFNLFLALIICNAIVDPLIYAFRSQELRKTL

Goat                          QHPTCGCIFKNFNLFLALIICNAIVDPLIYAFRSQELRKTL

Sheep                         QHPTCGCIFKNFNLFLALIICNAIVDPLIYAFRSQELRKTL

Cat                           RHPICGCVFKNFNLFLTLIICNSIVDPFIYAFRSQELRKTL

Horse                         QHPTCGCVFKNFKLFLTLILCSAIVDPLIYAFRSQELRKTL

Chicken                       TNPFCTCFFSYFNLFLILIICNSVVDPLIYAFRSQELRRTL
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 279 – 301 Helical; Name=7
Mutagenesis 273 – 273 C -> A. Impaired alpha-MSH binding affinity and cAMP response upon alpha-MSH activation, when associated with A-267.
Mutagenesis 294 – 294 D -> A. Impaired cAMP response upon alpha-MSH activation.
Mutagenesis 304 – 304 E -> A. Impaired cAMP response upon alpha-MSH activation, when associated with A-307.
Mutagenesis 307 – 307 R -> A. Impaired cAMP response upon alpha-MSH activation, when associated with A-304.
Helix 280 – 298



Literature citations
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.
Perez Oliva A.B.; Fernendez L.P.; DeTorre C.; Herraiz C.; Martinez-Escribano J.A.; Benitez J.; Lozano Teruel J.A.; Garcia-Borron J.C.; Jimenez-Cervantes C.; Ribas G.;
Hum. Mutat. 30:811-822(2009)
Cited for: VARIANTS CMM5 MET-38; ALA-51 AND ARG-289; CHARACTERIZATION OF VARIANTS CMM5 MET-38; PHE-41; ALA-51; THR-128 AND ARG-289; CHARACTERIZATION OF VARIANT SER-281;
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.