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UniProtKB/Swiss-Prot P09172: Variant p.Asp114Glu

Dopamine beta-hydroxylase
Gene: DBH
Chromosomal location: 9q34
Variant information

Variant position:  114
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Aspartate (D) to Glutamate (E) at position 114 (D114E, p.Asp114Glu).
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:  Similar physico-chemical property. Both residues are medium size and acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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

Involvement in disease:  Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]: Characterized by profound deficits in autonomic and cardiovascular function, but apparently only subtle signs, if any, of central nervous system dysfunction. {ECO:0000269|PubMed:11857564}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In DBH deficiency.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  114
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:   ELENADLVVLWTDGDTAYFA  D AWSDQKGQIHLDPQQDYQLL
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                         ELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLL

                              ELENADLVVLWTDGDNAYFGDAWSDQRGQIHLDSQQDYQLL

Mouse                         EMENADLIMLWTDGDRAYFADAWSDRKGQIHLDSQQDYQLL

Rat                           EMENADLVMLWTDGDRTYFADAWSDQKGQIHLDTHQDYQLL

Bovine                        ELENADLVVLWTDRDGAYFGDAWSDQKGQVHLDSQQDYQLL

Horse                         ELENADLVVLWTDGDSAYFGDAWSDQKGWIHLDAQQDYQLL

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.

TypePositionsDescription
Chain 1 – 617 Dopamine beta-hydroxylase
Chain 40 – 617 Soluble dopamine beta-hydroxylase
Topological domain 38 – 617 Intragranular
Domain 57 – 173 DOMON
Beta strand 111 – 117


Literature citations

Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.
Kim C.-H.; Zabetian C.P.; Cubells J.F.; Cho S.; Biaggioni I.; Cohen B.M.; Robertson D.; Kim K.-S.;
Am. J. Med. Genet. 108:140-147(2002)
Cited for: VARIANTS DBH DEFICIENCY MET-101; GLU-114 AND ASN-345;

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.