UniProtKB/SwissProt variant VAR

Variant information

Variant position:

2016

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

Type of variant:

US

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 Glycine (G) at position 2016 (D2016G, p.Asp2016Gly).

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 glycine (G)

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

Variant description:

In AT; unknown pathological significance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs587781302 [ dbSNP | Ensembl ]

Sequence information

Variant position:

2016

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:

ETGISLQDLLLEIYRSIGEP D SLYGCGGGKMLQPITRLRTY

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                         ETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPI-TRLRTY

Mouse                         ETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPL-TRIRT

Pig                           ETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPL-TRLRT

Caenorhabditis elegans        ---------------QWMCGIQFNAITGDKYLNSI-LRCNF

Drosophila                    -----------KAYESIGCLDAIPG-----FVNPMRSRLDF

Baker's yeast                 --------TLQKIYECINDGDFLAGLPVPHSIEGVLNSINR

Fission yeast                 --------LLSDILSQLPCPDAYYGIKRETSFKNILLKAVH

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.
Helix	2016 – 2019

Literature citations

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N.; Platzer M.; Rosenthal A.; Doerk T.; Bendix R.; Skawran B.; Stuhrmann M.; Wegner R.-D.; Sperling K.; Banin S.; Shiloh Y.; Baumer A.; Bernthaler U.; Sennefelder H.; Brohm M.; Weber B.H.F.; Schindler D.;
Hum. Mol. Genet. 8:69-79(1999)
Cited for: VARIANTS AT SER-570; CYS-785; GLY-1913; GLY-2016; ASP-2067; CYS-2227; ASP-2470; VAL-2662 DEL; PRO-2849 AND ARG-2867; VARIANTS CYS-49; LEU-858; ARG-1054; ASN-1853 AND VAL-1853;

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
Castellvi-Bel S.; Sheikhavandi S.; Telatar M.; Tai L.-Q.; Hwang M.J.; Wang Z.; Yang Z.; Cheng R.; Gatti R.A.;
Hum. Mutat. 14:156-162(1999)
Cited for: VARIANTS AT CYS-49; 375-GLN--VAL-3056 DEL; 1466-ARG--VAL-3056 DEL; 1730-ARG--VAL-3056 DEL; GLY-2016; 2224-MET--ARG-2227 DELINS ILE-SER; 2246-CYS--THR-2252 DELINS HIS; VAL-2664 DEL; VAL-2726; 2849-ARG--VAL-3056 DEL AND ARG-2855;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Asp2016Gly