UniProtKB/Swiss-Prot P09172: Variant p.Ala318Ser

Dopamine beta-hydroxylase
Gene: DBH
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Variant information Variant position:

318 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 Serine (S) at position 318 (A318S, p.Ala318Ser). 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 small size and polar (S) 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:

There are two main alleles of DBH: DBH-A with Ala-318 and DBH-B with Ser-318 (PubMed:10391209, PubMed:10391210, PubMed:10490716). Additional information on the polymorphism described.
Variant description:

In allele DBH-B. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs4531 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VLAAWALGAKAFYYPEEAGL A FGGPGSSRYLRLEVHYHNPL 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                         VLAAWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHYHNPL

                              VLAAWALGARAFYYPEEAGLAFGGSNSSRFLLLEIHYHNPT

Mouse                         VLAAWALGAKAFYYPKEAGVPFGGPGSSPFLRLEVHYHNPR

Rat                           VLAAWALGAKAFYYPEEAGVPLGSSGSSRFLRLEVHYHNPR

Bovine                        VLAAWALGAKAFYYPEEAGLAFGGPGSSRFLRLEVHYHNPL

Horse                         VLAAWALGAKAFYYPEEAGLAFGGAGSSRFLRLEVHYHNPL

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 – 617	Dopamine beta-hydroxylase
Chain	40 – 617	Soluble dopamine beta-hydroxylase
Topological domain	38 – 617	Intragranular
Binding site	333 – 333
Disulfide bond	154 – 596
Beta strand	313 – 319

Literature citations
No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH).
Williams H.J.; Bray N.; Murphy K.C.; Cardno A.G.; Jones L.A.; Owen M.J.;
Am. J. Med. Genet. 88:557-559(1999)
Cited for: VARIANT SER-318; 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: VARIANTS SER-318 AND CYS-549; Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS THR-211 AND SER-318;

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.