UniProtKB/Swiss-Prot Q01726: Variant p.Ile120Thr

Melanocyte-stimulating hormone receptor
Gene: MC1R
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Variant information Variant position:

120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Isoleucine (I) to Threonine (T) at position 120 (I120T, p.Ile120Thr). 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:

Change from medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Polymorphism:

Genetic variants in MC1R define the skin/hair/eye pigmentation variation locus 2 (SHEP2) [MIM:266300]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator, with type I skin being the most lightly pigmented and type IV the most dark pigmented. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. Partial loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer risk.MC1R variants associated with red hair and fair skin, determine female-specific increased analgesia from kappa-opioid receptor agonist [MIM:613098]. - Additional information on the polymorphism described.
Variant description:

Shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows decreased responses to low concentrations of NDP-MSH stimulation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs33932559 [ dbSNP | Ensembl ]

Sequence information Variant position:

120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

317 The length of the canonical sequence.
Location on the sequence:

LLEAGALVARAAVLQQLDNV I DVITCSSMLSSLCFLGAIAV 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                         LLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAV

Gorilla                       LLEAGALAARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAV

                              LVEAGALAAQAAVVQQLDDIIDVLICGSMVSSLCFLGAIAV

Rhesus macaque                LLEAGALVARAAVVQQLDNVIDVITCSSMLSSLCFLGAIAV

Chimpanzee                    LLEAGALVARAAVLQQVDNVIDVITCSSMLSSLCFLGAIAV

Mouse                         LLEAGILVARVALVQQLDNLIDVLICGSMVSSLCFLGIIAI

Pig                           LLEAGALAAQAAVVQQLDNVMDVLICGSMVSSLCFLGAIAV

Bovine                        LLEAGVLATQAAVVQQLDNVIDVLICGSMVSSLCFLGAIAV

Goat                          LLEAGVLATRAAVVQQLDNVIDVLICSSMVSSLCFLGAIAV

Sheep                         LLEAGVLATRAAVVQQLDNVIDVLICSSMVSSLCFLGAIAV

Cat                           LLEAGALAGRAAVVQRLDDIIDVLVCGAMVSSLCFLGAIAV

Horse                         LLEAGVLATQASVLQQLDNIIDVLICGSMVSSLCFLGSIAV

Chicken                       LMEHGVLVIRASIVRHMDNVIDMLICSSVVSSLSFLGVIAV

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
Chain	1 – 317	Melanocyte-stimulating hormone receptor
Transmembrane	119 – 140	Helical; Name=3
Helix	110 – 147

Literature citations
Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.
Nakayama K.; Soemantri A.; Jin F.; Dashnyam B.; Ohtsuka R.; Duanchang P.; Isa M.N.; Settheetham-Ishida W.; Harihara S.; Ishida T.;
Hum. Genet. 119:322-330(2006)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; FUNCTION; VARIANTS GLN-67; MET-92; THR-120; PHE-147 DEL; CYS-151; ILE-157; THR-159; GLN-163 AND GLY-166; CHARACTERIZATION OF VARIANTS GLN-67; MET-92; THR-120; PHE-147 DEL; CYS-151; ILE-157; THR-159; GLN-163 AND GLY-166;

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.