UniProtKB/Swiss-Prot P00813: Variant p.Asp8Asn

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 8 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 Aspartate (D) to Asparagine (N) at position 8 (D8N, p.Asp8Asn). 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 acidic (D) to medium size and polar (N) 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 is a common allele, ADA*2, also known as the ADA 2 allozyme. It is associated with the reduced metabolism of adenosine to inosine. It specifically enhances deep sleep and slow-wave activity (SWA) during sleep. Additional information on the polymorphism described.
Variant description: Allele ADA*2; found in about 10% of the population; affects duration and intensity of deep sleep; enhances negative effects of sleep loss during sleep deprivation; may have a protective role against male infertility; 20% to 30% decrease in activity. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs73598374 [ dbSNP | Ensembl ]

Sequence information

Variant position: 8 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 363 The length of the canonical sequence.
Location on the sequence: MAQTPAF D KPKVELHVHLDGSIKPETIL 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.

Type	Positions	Description
Initiator methionine	1 – 1	Removed
Chain	2 – 363	Adenosine deaminase
Binding site	15 – 15
Binding site	17 – 17
Binding site	17 – 17
Binding site	19 – 19
Modified residue	2 – 2	N-acetylalanine

Literature citations

An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.
Hirschhorn R.; Yang D.R.; Israni A.;
Ann. Hum. Genet. 58:1-9(1994)
Cited for: VARIANT ADA*2 ASN-8; A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans.
Retey J.V.; Adam M.; Honegger E.; Khatami R.; Luhmann U.F.O.; Jung H.H.; Berger W.; Landolt H.-P.;
Proc. Natl. Acad. Sci. U.S.A. 102:15676-15681(2005)
Cited for: EFFECT OF VARIANT ADA*2 ASN-8 ON SLEEP; Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans.
Bachmann V.; Klaus F.; Bodenmann S.; Schaefer N.; Brugger P.; Huber S.; Berger W.; Landolt H.P.;
Cereb. Cortex 22:962-970(2012)
Cited for: VARIANT ADA*2 ASN-8; CHARACTERIZATION OF VARIANT ASN-8; The Role of G22 A Adenosine Deaminase 1 Gene Polymorphism and the Activities of ADA Isoenzymes in Fertile and Infertile Men.
Fattahi A.; Khodadadi I.; Amiri I.; Latifi Z.; Ghorbani M.; Tavilani H.;
Urology 86:730-734(2015)
Cited for: VARIANT ADA*2 ASN-8; CHARACTERIZATION OF VARIANT ASN-8; FUNCTION; CATALYTIC ACTIVITY;