Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Thr2396Ser

Serine-protein kinase ATM
Gene: ATM
Feedback?
Variant information Variant position: help 2396 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 Threonine (T) to Serine (S) at position 2396 (T2396S, p.Thr2396Ser). 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 medium size and polar (T) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help Found in a patient with T-prolymphocytic leukemia; uncertain significance; also found in a patient with early-onset breast cancer; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2396 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 SDELRNGKMKAFLSLARFSD T QYQRIENYMKSSEFENKQAL 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                         SDELRNGKMKAFLSLARFSDTQYQRIENYMKSSEFENKQAL

Mouse                         SRELRNGQMKAFLSLARFSDTQYQRIENYMKSSEFENKQTL

Pig                           NDELRNGKMKAFLSLARFSDTQYQRIENYMKSSEFENKQAL

Caenorhabditis elegans        NKDSVETRLKVLLKLHSVCIGQLSKLEEYRETRTYRMKQQA

Drosophila                    DAYASKQRTAAYATIAKYADREYQQLHDYRHSQEYQTLKDI

Baker's yeast                 NVEDHESCSDVFYTLGSFLDEQAQKLRSNGEIEDREHRSYT

Fission yeast                 -----KEKAKIYCMFAQFCDNNYSSPD---LTEDFKRMEKL

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 1940 – 2566 FAT
Mutagenesis 2394 – 2394 S -> L. Loss of phosphorylation of target proteins.
Helix 2377 – 2406



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; ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.
Brunet J.; Gutierrez-Enriquez S.; Torres A.; Berez V.; Sanjose S.; Galceran J.; Izquierdo A.; Menendez J.A.; Guma J.; Borras J.;
Clin. Genet. 73:465-473(2008)
Cited for: VARIANTS CYS-49; LEU-858; ARG-1054; VAL-1255; ASN-1853; THR-2105; SER-2396 AND HIS-2719;
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.