UniProtKB/Swiss-Prot Q9NZK5: Variant p.Val119Ala

Adenosine deaminase 2
Gene: ADA2
Chromosomal location: 22q11.2
Variant information

Variant position:  119
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 Valine (V) to Alanine (A) at position 119 (V119A, p.Val119Ala).
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 medium size and hydrophobic (V) to small size and hydrophobic (A)
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

Involvement in disease:  Sneddon syndrome (SNDDS) [MIM:182410]: A systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies. {ECO:0000269|PubMed:25075847}. 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 SNDDS.
Any additional useful information about the variant.



Sequence information

Variant position:  119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  511
The length of the canonical sequence.

Location on the sequence:   FNILRMMPKGAALHLHDIGI  V TMDWLVRNVTYRPHCHICFT
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.

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 30 – 511 Adenosine deaminase 2
Metal binding 112 – 112 Zinc; catalytic
Metal binding 114 – 114 Zinc; catalytic
Binding site 115 – 115 Substrate
Glycosylation 127 – 127 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 241 Missing. In isoform 2.
Mutagenesis 137 – 137 C -> G. Abolishes secretion.
Beta strand 117 – 119


Literature citations

Mutant ADA2 in vasculopathies.
Bras J.; Guerreiro R.; Santo G.C.;
N. Engl. J. Med. 371:478-480(2014)
Cited for: INVOLVEMENT IN SNDDS; VARIANTS SNDDS ALA-119 AND SER-142;

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.