Home  |  Contact

UniProtKB/Swiss-Prot Q13315: Variant p.Val2424Gly

Serine-protein kinase ATM
Gene: ATM
Variant information

Variant position:  2424
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 Valine (V) to Glycine (G) at position 2424 (V2424G, p.Val2424Gly).
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 hydrophobic (V) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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; also found in B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; may be associated with increased risk for breast cancer; decreased phosphorylation of target proteins.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  2424
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:   YMKSSEFENKQALLKRAKEE  V GLLREHKIQTNRYTVKVQRE
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                         YMKSSEFE-NKQAL--LKRAKEEVGLLREHKIQTNRYTV-----KVQRE

Mouse                         YMKSSEFE-NKQTL--LKRAKEEVGLLREHKIQTNRYTV--

Pig                           YMKSSEFE-NKQAL--LKRAKEEVGLLREHKIQTNRYTI--

Caenorhabditis elegans        YRETRTYRMKQQAVTAFEQQIQNSCRTSLARGNSGDEWTKK

Drosophila                    YRHSQEYQ-TLKDI--IEQNRQTAEKVTQRENQDRRVIS--

Baker's yeast                 DREHRSYT-GKSTLKALELIYKNTKLPENERKDAKRHYN--

Fission yeast                 RMEKLYFE-KKNDIQQLERSIVNASNMKEEKMLKNHHS---

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.

TypePositionsDescription
Chain 2 – 3056 Serine-protein kinase ATM
Domain 1940 – 2566 FAT


Literature citations

Mutations associated with variant phenotypes in ataxia-telangiectasia.
McConville C.M.; Stankovic T.; Byrd P.J.; McGuire G.M.; Yao Q.-Y.; Lennox G.G.; Taylor A.M.R.;
Am. J. Hum. Genet. 59:320-330(1996)
Cited for: VARIANTS GLY-2424; 2546-SER--ILE-2548 DEL AND CYS-2827;

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 mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
Stankovic T.; Kidd A.M.J.; Sutcliffe A.; McGuire G.M.; Robinson P.; Weber P.; Bedenham T.; Bradwell A.R.; Easton D.F.; Lennox G.G.; Haites N.; Byrd P.J.; Taylor A.M.R.;
Am. J. Hum. Genet. 62:334-345(1998)
Cited for: POSSIBLE INVOLVEMENT IN TALL; VARIANTS AT LEU-292; ASP-768; GLN-1001; ARG-1691; ILE-1743; GLY-2424; 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL; ASP-2554; GLY-2668 AND CYS-2827;

ATM mutations in B-cell chronic lymphocytic leukemia.
Bullrich F.; Rasio D.; Kitada S.; Starostik P.; Kipps T.; Keating M.; Albitar M.; Reed J.C.; Croce C.M.;
Cancer Res. 59:24-27(1999)
Cited for: POSSIBLE INVOLVEMENT IN BCLL; VARIANTS CYS-332; ARG-1691 AND GLY-2424;

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.