UniProtKB/SwissProt variant VAR

Variant information

Variant position:

9

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 Glycine (G) to Serine (S) at position 9 (G9S, p.Gly9Ser).

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 glycine (G) to small size and polar (S)

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

Other resources:

Links to websites of interest for the variant.

Variant rs6280 [ dbSNP | Ensembl ]

Sequence information

Variant position:

9

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:

MASLSQLS G HLNYTCGAENSTGASQARPH

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                         MASLSQLSGHLNYTCGAENSTGASQARPH

Chimpanzee                    MAPLSQLSGHLNYTCGAENSTGASQARPH

Mouse                         MAPLSQISSHINSTCGAENSTGVNRARPH

Rat                           MAPLSQISTHLNSTCGAENSTGVNRARPH

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	D(3) dopamine receptor
Topological domain	1 – 32	Extracellular
Glycosylation	12 – 12	N-linked (GlcNAc...) asparagine
Glycosylation	19 – 19	N-linked (GlcNAc...) asparagine

Literature citations

Selective loss of dopamine D3-type receptor mRNA expression in parietal and motor cortices of patients with chronic schizophrenia.
Schmauss C.; Haroutunian V.; Davis K.L.; Davidson M.;
Proc. Natl. Acad. Sci. U.S.A. 90:8942-8946(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANT SER-9;

Submission
Fishburn C.S.; Park B.-H.; Fuchs S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-9;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT SER-9;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT SER-9;

Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
Crocq M.A.; Mant R.; Asherson P.; Williams J.; Hode Y.; Mayerova A.; Collier D.; Lannfelt L.; Sokoloff P.; Schwartz J.C.;
J. Med. Genet. 29:858-860(1992)
Cited for: INVOLVEMENT IN SCZD; VARIANT SER-9;

European multicentre association study of schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms.
Spurlock G.; Williams J.; McGuffin P.; Aschauer H.N.; Lenzinger E.; Fuchs K.; Sieghart W.C.; Meszaros K.; Fathi N.; Laurent C.; Mallet J.; Macciardi F.; Pedrini S.; Gill M.; Hawi Z.; Gibson S.; Jazin E.E.; Yang H.T.; Adolfsson R.; Pato C.N.; Dourado A.M.; Owen M.J.;
Am. J. Med. Genet. 81:24-28(1998)
Cited for: INVOLVEMENT IN SCZD; VARIANT SER-9;

Amino-acid substitution in the dopamine D3 receptor as useful polymorphism for investigating psychiatric disorders.
Lannfelt T.; Sokoloff P.; Martres M.-P.; Pilon C.; Giros B.; Joensson E.; Sedvall G.; Schwartz J.-C.;
Cited for: VARIANT SER-9;

Further evidence of no association between Ser9Gly polymorphism of dopamine D3 receptor gene and schizophrenia.
Chen C.-H.; Liu M.-Y.; Wei F.-C.; Koong F.-J.; Hwu H.-G.; Hsiao K.-J.;
Am. J. Med. Genet. 74:40-43(1997)
Cited for: VARIANT SER-9;

Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANT SER-9;

Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families.
Lucotte G.; Lagarde J.-P.; Funalot B.; Sokoloff P.;
Clin. Genet. 69:437-440(2006)
Cited for: VARIANT SER-9; INVOLVEMENT IN SUSCEPTIBILITY TO ETM1;

A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.
Jeanneteau F.; Funalot B.; Jankovic J.; Deng H.; Lagarde J.-P.; Lucotte G.; Sokoloff P.;
Proc. Natl. Acad. Sci. U.S.A. 103:10753-10758(2006)
Cited for: VARIANT SER-9; INVOLVEMENT IN SUSCEPTIBILITY TO ETM1;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35462: Variant p.Gly9Ser