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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q01726: Variant p.Ser41Phe

Melanocyte-stimulating hormone receptor
Gene: MC1R
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Variant information Variant position: help 41 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 Serine (S) to Phenylalanine (F) at position 41 (S41F, p.Ser41Phe). 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 small size and polar (S) to large size and aromatic (F) 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 CMM5; complete absence of functional coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. Any additional useful information about the variant.


Sequence information Variant position: help 41 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 IPQLGLAANQTGARCLEVSI S DGLFLSLGLVSLVENALVVA 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                         IPQLGLAA---NQTGARCLEVSISDGLFLSLGLVSLVENALVVA

Gorilla                       IPQLGLAA---NQTGARCLEVSIPDGLFLSLGLVSLVENVL

                              TPHFELAA---NQTGPRCLEVSIPNGLFLSLGLVSVVENVL

Rhesus macaque                TPHLGLAA---NQTGARCREVSIPDGLFLSLGLVSLVENVL

Chimpanzee                    IPQLGLAA---NQTGARCLEVSIPDGLFLSLGLVSLVENML

Mouse                         TSHLGLAT---NQSEPWCLYVSIPDGLFLSLGLVSLVENVL

Pig                           APRLGLAANQTNQTGPQCLEVSIPDGLFLSLGLVSLVENVL

Bovine                        TLPFTLAP---NRTGPQCLEVSIPDGLFLSLGLVSLVENVL

Goat                          TLPLTLAP---NRTGPQCLEVSIPDGLFLSLGLVSLVENVL

Sheep                         TLPLTLAP---NRTGPQCLEVSIPDGLFLSLGLVSLVENVL

Cat                           APRLGLAA---NQTGPRCLELSVPDGLFLGLGLVSVVENVL

Horse                         TPYLGLTT---NQTEPPCLEVSIPDGLFLSLGLVSLVENVL

Chicken                       QSNATAGA-----GGAWCQGLDIPNELFLTLGLVSLVENLL
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 38 – 63 Helical; Name=1
Glycosylation 29 – 29 N-linked (GlcNAc...) asparagine



Literature citations
MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.
Fernandez L.; Milne R.; Bravo J.; Lopez J.; Aviles J.; Longo M.; Benitez J.; Lazaro P.; Ribas G.;
Carcinogenesis 28:1659-1664(2007)
Cited for: VARIANTS CMM5 PHE-41 AND THR-128; VARIANTS LEU-60; MET-92; THR-155; TRP-160; GLN-163; SER-281 AND HIS-294; 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.