UniProtKB/SwissProt variant VAR

Variant information

Variant position:

2023

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

Type of variant:

LP/P [Disclaimer]

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 Glycine (G) to Arginine (R) at position 2023 (G2023R, p.Gly2023Arg).

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 glycine (G) to large size and basic (R)

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:

In AT; loss of protein expression.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs11212587 [ dbSNP | Ensembl ]

Sequence information

Variant position:

2023

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

Protein sequence length:

3056

The length of the canonical sequence.

Location on the sequence:

DLLLEIYRSIGEPDSLYGCG G GKMLQPITRLRTYEHEAMWG

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                         DLLLEIYRSIGEPDSLYGCGGGKMLQPI-TRLRTYEHEAMWG

Mouse                         DLLLEIYRSIGEPDSLYGCGGGKMLQPL-TRIRTYEHEATW

Pig                           DLLLEIYRSIGEPDSLYGCGGGKMLQPL-TRLRTYEHEAMW

Caenorhabditis elegans        --------QWMCGIQFNAITGDKYLNSI-LRCNFNEYTKKI

Drosophila                    ----KAYESIGCLDAIPG-----FVNPMRSRLDFLGH----

Baker's yeast                 -TLQKIYECINDGDFLAGLPVPHSIEGVLNSINRIDSDTW-

Fission yeast                 -LLSDILSQLPCPDAYYGIKRETSFKNILLKAVHEKR----

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	2 – 3056	Serine-protein kinase ATM
Domain	1940 – 2566	FAT
Mutagenesis	2019 – 2019	Y -> C. Loss of phosphorylation of target proteins.
Mutagenesis	2039 – 2039	E -> K. Decreased phosphorylation of target proteins.

Literature citations

Molecular and functional characterization of a cohort of Spanish patients with ataxia-telangiectasia.
Carranza D.; Vega A.K.; Torres-Rusillo S.; Montero E.; Martinez L.J.; Santamaria M.; Santos J.L.; Molina I.J.;
NeuroMolecular Med. 19:161-174(2017)
Cited for: VARIANTS AT VAL-323; PRO-1046; ARG-2023; SER-2068; ASP-2080; HIS-2627; LEU-2834 AND ASP-3003; CHARACTERIZATION OF VARIANTS AT VAL-323; PRO-1046; ARG-2023; SER-2068; ASP-2080; HIS-2627; LEU-2834 AND ASP-3003; PHOSPHORYLATION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Gly2023Arg