UniProtKB/Swiss-Prot P59103: Variant p.Arg30Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 30 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 Arginine (R) to Lysine (K) at position 30 (R30K, p.Arg30Lys). 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 large size and basic. 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
Variant description: Does not affect interaction with DDO. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs2391191 [ dbSNP | Ensembl ]

Sequence information

Variant position: 30 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 153 The length of the canonical sequence.
Location on the sequence: SLQLFRSRYTLGKIYFIGFQ R SILLSKSENSLNSIAKETEE 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
Chain	1 – 153	D-amino acid oxidase regulator
Alternative sequence	1 – 71	Missing. In isoform 3.
Alternative sequence	16 – 16	S -> V. In isoform 2.
Alternative sequence	17 – 153	Missing. In isoform 2.

Literature citations

Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.
Chumakov I.; Blumenfeld M.; Guerassimenko O.; Cavarec L.; Palicio M.; Abderrahim H.; Bougueleret L.; Barry C.; Tanaka H.; La Rosa P.; Puech A.; Tahri N.; Cohen-Akenine A.; Delabrosse S.; Lissarrague S.; Picard F.-P.; Maurice K.; Essioux L.; Millasseau P.; Grel P.; Debailleul V.; Simon A.-M.; Caterina D.; Dufaure I.; Malekzadeh K.; Belova M.; Luan J.-J.; Bouillot M.; Sambucy J.-L.; Primas G.; Saumier M.; Boubkiri N.; Martin-Saumier S.; Nasroune M.; Peixoto H.; Delaye A.; Pinchot V.; Bastucci M.; Guillou S.; Chevillon M.; Sainz-Fuertes R.; Meguenni S.; Aurich-Costa J.; Cherif D.; Gimalac A.; Van Duijn C.; Gauvreau D.; Ouellette G.; Fortier I.; Raelson J.; Sherbatich T.; Riazanskay N.; Rogaev E.; Raeymaekers P.; Aerssens J.; Konings F.; Luyten W.; Macciardi F.; Sham P.C.; Straub R.E.; Weinberger D.R.; Cohen N.; Cohen D.;
Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANT LYS-30; FUNCTION; ALTERNATIVE SPLICING; INTERACTION WITH DAO; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INVOLVEMENT IN SCZD; On the regulation of human D-aspartate oxidase.
Rabattoni V.; Motta Z.; Miceli M.; Molla G.; Fissore A.; Adinolfi S.; Pollegioni L.; Sacchi S.;
Protein Sci. 32:e4802-e4802(2023)
Cited for: CHARACTERIZATION OF VARIANT LYS-30; FUNCTION; INTERACTION WITH DDO;