UniProtKB/Swiss-Prot P35372: Variant p.Arg260His

Mu-type opioid receptor
Gene: OPRM1
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Variant information Variant position:

260 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 Arginine (R) to Histidine (H) at position 260 (R260H, p.Arg260His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Variant Asp-40 does not show altered binding affinities for most opioid peptides and alkaloids tested, but it binds beta-endorphin, an endogenous opioid that activates the mu opioid receptor, approximately 3 times more tightly than the most common allelic form. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1799974 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IFAFIMPVLIITVCYGLMIL R LKSVRMLSGSKEKDRNLRRI 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                         IFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRI

Rhesus macaque                IFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRI

Chimpanzee                    IFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRI

Mouse                         IFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRI

Rat                           IFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRI

Pig                           IFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRI

Bovine                        IFAFIMPILIITVCYGLMILRLKSVRMLSGSKEKDRNLRRI

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 – 400	Mu-type opioid receptor
Topological domain	256 – 279	Cytoplasmic
Alternative sequence	97 – 400	RYTKMKTATNIYIFNLALADALATSTLPFQSVNYLMGTWPFGTILCKIVISIDYYNMFTSIFTLCTMSVDRYIAVCHPVKALDFRTPRNAKIINVCNWILSSAIGLPVMFMATTKYRQGSIDCTLTFSHPTWYWENLLKICVFIFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRITRMVLVVVAVFIVCWTPIHIYVIIKALVTIPETTFQTVSWHFCIALGYTNSCLNPVLYAFLDENFKRCFREFCIPTSSNIEQQNSTRIRQNTRDHPSTANTVDRTNHQLENLEAETAPLP -> SSSWF. In isoform 17.
Alternative sequence	98 – 400	YTKMKTATNIYIFNLALADALATSTLPFQSVNYLMGTWPFGTILCKIVISIDYYNMFTSIFTLCTMSVDRYIAVCHPVKALDFRTPRNAKIINVCNWILSSAIGLPVMFMATTKYRQGSIDCTLTFSHPTWYWENLLKICVFIFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRITRMVLVVVAVFIVCWTPIHIYVIIKALVTIPETTFQTVSWHFCIALGYTNSCLNPVLYAFLDENFKRCFREFCIPTSSNIEQQNSTRIRQNTRDHPSTANTVDRTNHQLENLEAETAPLP -> YSWFVIGGPEGRRKQRRLGEDKRARGCGEKG. In isoform 16.
Alternative sequence	187 – 400	Missing. In isoform 18.
Mutagenesis	273 – 273	K -> A. Impairs interaction with calmodulin.
Mutagenesis	275 – 275	R -> A. Impairs interaction with calmodulin.
Helix	244 – 263

Literature citations
Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction.
Bond C.; LaForge K.S.; Tian M.; Melia D.; Zhang S.; Borg L.; Gong J.; Schluger J.; Strong J.A.; Leal S.M.; Tischfield J.A.; Kreek M.J.; Yu L.;
Proc. Natl. Acad. Sci. U.S.A. 95:9608-9613(1998)
Cited for: VARIANTS VAL-6; ASP-40 AND HIS-260; CHARACTERIZATION OF VARIANT ASP-40; POLYMORPHISM; FUNCTION; SUBCELLULAR LOCATION;

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.