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UniProtKB/Swiss-Prot Q13315: Variant p.Arg2832Cys

Serine-protein kinase ATM
Gene: ATM
Variant information

Variant position:  2832
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 Arginine (R) to Cysteine (C) at position 2832 (R2832C, p.Arg2832Cys).
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 large size and basic (R) to medium size and polar (C)
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 non-Hodgkin lymphoma; increases protein abundance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  2832
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:   SFEEKYEVFMDVCQNFQPVF  R YFCMEKFLDPAIWFEKRLAY
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                         SFEEKYEVFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAY

Mouse                         SFEEKYDTFMTICQNFEPVFRYFCMEKFLDPAVWFEKRLAY

Pig                           SFEEKYEIFMNICQNFQPVFRYFCMEKFLDPAVWFERRLAY

Caenorhabditis elegans        STETRRQVFVEICQQYSPVFRHFFYTNFSTAQIWRQKIINY

Drosophila                    PKETRYAIYKKICENIKPVFHYFLLEKFPIPGVWFERRLAY

Baker's yeast                 SNEERLKAYLKITNEIKPQLRNFFFDSFPDPLDWFEAKKTY

Fission yeast                 DLETRLKVYDLVCRHYRPVFRHFFLESYADPVQWFTTQTNY

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 2686 – 2998 PI3K/PI4K catalytic
Helix 2831 – 2833


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;

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
Telatar M.; Teraoka S.; Wang Z.; Chun H.H.; Liang T.; Castellvi-Bel S.; Udar N.; Boerresen-Dale A.-L.; Chessa L.; Bernatowska-Matuszkiewicz E.; Porras O.; Watanabe M.; Junker A.; Concannon P.; Gatti R.A.;
Am. J. Hum. Genet. 62:86-97(1998)
Cited for: VARIANT AT CYS-2832;

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
Li A.; Swift M.;
Am. J. Med. Genet. 92:170-177(2000)
Cited for: VARIANTS AT GLU-224; VAL-323; PRO-1420; CYS-2218; 2546-SER--ILE-2548 DEL; GLN-2625; CYS-2832; 2855-ARG-ILE-2856 AND CYS-3008; VARIANTS VAL-1853 AND ILE-2438;

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.