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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Phe2732Leu

Serine-protein kinase ATM
Gene: ATM
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Variant information Variant position: help 2732 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Phenylalanine (F) to Leucine (L) at position 2732 (F2732L, p.Phe2732Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) 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 In T-prolymphocytic leukemia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2732 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 RRQLVKGRDDLRQDAVMQQV F QMCNTLLQRNTETRKRKLTI 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                         RRQLVKG-RDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTI

Mouse                         RRQLVKG-RDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLT

Pig                           RRQLVKG-RDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLT

Caenorhabditis elegans        YKTVWK--KDDVRQDVLVEQMFDVTNNMLE--------KAM

Drosophila                    RAQLVKG-KDDLRQDAVMQQVFGIVNELLNQDSEFIERKLK

Baker's yeast                 QKALMKGSNDDLRQDAIMEQVFQQVNKVLQNDKVLRNLDLG

Fission yeast                 YKQLVKGGNDDLRQDAVMEQVFEQVNGFLRSYRKTSQRNLS

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
Mutagenesis 2730 – 2730 Q -> P. Loss of phosphorylation of target proteins.
Helix 2723 – 2740



Literature citations
Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.
Vorechovsky I.; Luo L.; Dyer M.J.S.; Catovsky D.; Amlot P.L.; Yaxley J.C.; Foroni L.; Hammarstroem L.; Webster A.D.B.; Yuille M.A.R.;
Nat. Genet. 17:96-99(1997)
Cited for: POSSIBLE INVOLVEMENT IN TPLL AND BNHL; VARIANTS VAL-1040; THR-1407; SER-1463; HIS-1682; HIS-1910; LYS-2164; SER-2396; GLY-2424; PRO-2442; 2546-SER--ILE-2548 DEL; ALA-2695; ARG-2722; VAL-2725; LEU-2732; LYS-2810 DEL; CYS-2832 AND 2871-ARG-HIS-2872 DELINS SER AND VAL-2890;
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.