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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Gly2765Ser

Serine-protein kinase ATM
Gene: ATM
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Variant information Variant position: help 2765 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Serine (S) at position 2765 (G2765S, p.Gly2765Ser). 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: help Change from glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help May contribute to breast cancer; lack of phosphorylation of target proteins. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2765 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 3056 The length of the canonical sequence.
Location on the sequence: help TRKRKLTICTYKVVPLSQRS G VLEWCTGTVPIGEFLVNNED 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         TRKRKLTICTYKVVPLSQRSGVLEWCTGTVPIGEFL--VNNED

Mouse                         TRKRKLTICTYKVVPLSQRSGVLEWCTGTVPIGEYL--VNS

Pig                           TRKRKLTICTYKVVPLSQRSGVLEWCTGTVPIGEYL--VNN

Caenorhabditis elegans        ----KAMLRTYNVVPLDTECGVIEFCGGTVSLKEVMCGVTR

Drosophila                    FIERKLKLRTYKVTPLSMRSGILEWCTNSVPVGHYLV-VEG

Baker's yeast                 LRNLDLGIRTYKVVPLGPKAGIIEFVANSTSLHQIL-----

Fission yeast                 TSQRNLSMRTYKVIPLALKTGVIEWVQDTIPLGEYL-----

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 3056 Serine-protein kinase ATM
Domain 2686 – 2998 PI3K/PI4K catalytic
Beta strand 2765 – 2768



Literature citations
Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.
Izatt L.; Greenman J.; Hodgson S.V.; Ellis D.; Watts S.; Scott G.; Jacobs C.; Liebmann R.; Zvelebil M.J.; Mathew C.; Solomon E.;
Genes Chromosomes Cancer 26:286-294(1999)
Cited for: VARIANTS CYS-49; LEU-182; PRO-707; LEU-858; PHE-1420; ALA-1570; ASN-1853 AND SER-2765; Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
Barone G.; Groom A.; Reiman A.; Srinivasan V.; Byrd P.J.; Taylor A.M.;
Hum. Mutat. 30:1222-1230(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS AT LEU-292; PRO-1465; ILE-1743; THR-2274; GLY-2424; 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL; ASP-2554; GLY-2668; CYS-2827; 2855-SER-VAL-2856 DELINS ARG-ILE AND CYS-3008; CHARACTERIZATION OF VARIANTS VAL-546; ARG-1054; ILE-1322; ARG-1691; CYS-1961 AND SER-2765; VARIANT ILE-1322; MUTAGENESIS OF LYS-1807; VAL-1941; TYR-2019; GLU-2039; LEU-2338; SER-2394; LEU-2452; SER-2685; PRO-2699; ASP-2708 AND GLN-2730;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.