UniProtKB/SwissProt variant VAR

Variant information

Variant position:

327

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Lysine (K) to Glutamate (E) at position 327 (K327E, p.Lys327Glu).

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 (K) to medium size and acidic (E)

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 variations in DRD2 may determine the genetic susceptibility to alcoholism [MIM:103780]. Genetic variations in DRD2 might be a protective factor against the development of withdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholics with a paternal and grandpaternal history of alcoholism and might contribute to suicide risk in alcoholics.

Additional information on the polymorphism described.

Other resources:

Links to websites of interest for the variant.

Variant rs71653614 [ dbSNP | Ensembl ]

Sequence information

Variant position:

327

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

443

The length of the canonical sequence.

Location on the sequence:

LPDPSHHGLHSTPDSPAKPE K NGHAKDHPKIAKIFEIQTMP

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                         LPDPSHHGLHSTPDSPAKPEKNGHAKD-HPKIAKIFEIQTMP

                              LPDPSHHGLHSTADSPAKPEKNGHAKD-HPKIAKIFEIQSM

Chimpanzee                    LPDPSHHGLHSTPDSPAKPEKNGHAKD-HPKIAKIFEIQTM

Mouse                         LPDPSHHGLHSNPDSPAKPEKNGHAKIVNPRIAKFFEIQTM

Rat                           LPDPSHHGLHSNPDSPAKPEKNGHAKIVNPRIAKFFEIQTM

Bovine                        LPDPSHHGLHSTPDSPAKPEKNGHAKTVNPKIAKIFEIQSM

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 – 443	D(2) dopamine receptor
Topological domain	214 – 373	Cytoplasmic
Region	211 – 373	Interaction with PPP1R9B

Literature citations

A population-specific HTR2B stop codon predisposes to severe impulsivity.
Bevilacqua L.; Doly S.; Kaprio J.; Yuan Q.; Tikkanen R.; Paunio T.; Zhou Z.; Wedenoja J.; Maroteaux L.; Diaz S.; Belmer A.; Hodgkinson C.A.; Dell'osso L.; Suvisaari J.; Coccaro E.; Rose R.J.; Peltonen L.; Virkkunen M.; Goldman D.;
Nature 468:1061-1066(2010)
Cited for: VARIANT GLU-327;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14416: Variant p.Lys327Glu