UniProtKB/Swiss-Prot P35372: Variant p.Ala6Val

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

6 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 Alanine (A) to Valine (V) at position 6 (A6V, p.Ala6Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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 rs1799972 [ dbSNP | Ensembl ]

Sequence information Variant position:

6 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:

MDSSA A PTNASNCTDALAYSSCSPAP 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                         MDSSAAPTNASNCTDA-LAYSSCSPAP

Rhesus macaque                MDSSAVPTNASNCTDA-LAHSSCSPA

Chimpanzee                    MDSSAVPANASNCTDDALAYSSCSPA

Mouse                         MDSSAGPGNISDCSDP-LAPASCSPA

Rat                           MDSSTGPGNTSDCSDP-LAQASCSPA

Pig                           MDSSADPRNASNCTDPFSPSSMCSPV

Bovine                        MDSGAVPTNASNCTDPFTHPSSCSPA

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	1 – 68	Extracellular
Glycosylation	9 – 9	N-linked (GlcNAc...) asparagine
Glycosylation	12 – 12	N-linked (GlcNAc...) asparagine
Alternative sequence	1 – 100	Missing. In isoform 12, isoform 14 and isoform 15.
Alternative sequence	1 – 96	MDSSAAPTNASNCTDALAYSSCSPAPSPGSWVNLSHLDGNLSDPCGPNRTDLGGRDSLCPPTGSPSMITAITIMALYSIVCVVGLFGNFLVMYVIV -> MMRAKSISTKAGKPS. In isoform 13.
Alternative sequence	1 – 1	M -> MCLHRRVPSEETYSLDRFAQNPPLFPPPSLPASESRMAHAPLLQRCGAARTGFCKKQQELWQRRKEAAEALGTRKVSVLLATSHSGARPAVSTM. In isoform 10.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-6; ASP-40; CYS-147; ASP-152; CYS-265 AND ASN-274; An homozygous Ala 6 Val (GCC->GTC) mutation was detected on human mu opioid receptor gene of an African American individual with sickle cell anemia.
Metha S.; Glendenning M.; Kutlar A.; Kutlar F.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-20; VARIANT VAL-6; Mu opioid receptor gene variants: lack of association with alcohol dependence.
Bergen A.W.; Kokoszka J.; Peterson R.; Long J.C.; Virkkunen M.; Linnoila M.; Goldman D.;
Mol. Psychiatry 2:490-494(1997)
Cited for: VARIANTS VAL-6; ASP-40 AND CYS-147; 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.