UniProtKB/Swiss-Prot Q14676: Variant p.Glu1509Asp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1509 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 Glutamate (E) to Aspartate (D) at position 1509 (E1509D, p.Glu1509Asp). 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
Other resources: Links to websites of interest for the variant.

• Variant rs3132589 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1509 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2089 The length of the canonical sequence.
Location on the sequence: VVPTAPELQASASTDQPVTS E PTSRTTRGRKNRSSVKTPET 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 – 2089	Mediator of DNA damage checkpoint protein 1
Region	780 – 1887	Disordered
Region	1148 – 1610	Interaction with the PRKDC complex
Compositional bias	1498 – 1514	Polar residues
Alternative sequence	1029 – 1787	Missing. In isoform 4.

Literature citations

Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.
Shiina S.; Tamiya G.; Oka A.; Inoko H.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS LYS-251; ALA-586; ASP-1509; PRO-1540 AND ARG-1545; Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity.
Shiina T.; Ota M.; Shimizu S.; Katsuyama Y.; Hashimoto N.; Takasu M.; Anzai T.; Kulski J.K.; Kikkawa E.; Naruse T.; Kimura N.; Yanagiya K.; Watanabe A.; Hosomichi K.; Kohara S.; Iwamoto C.; Umehara Y.; Meyer A.; Wanner V.; Sano K.; Macquin C.; Ikeo K.; Tokunaga K.; Gojobori T.; Inoko H.; Bahram S.;
Genetics 173:1555-1570(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS LYS-371; LEU-386; PRO-1180; ASP-1509 AND ARG-1545;