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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Arg3008His

Serine-protein kinase ATM
Gene: ATM
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Variant information Variant position: help 3008 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 Arginine (R) to Histidine (H) at position 3008 (R3008H, p.Arg3008His). 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 basic (R) to medium size and polar (H) 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 B-cell chronic lymphocytic leukemia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 3008 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 DQECKRNLSDIDQSFNKVAE R VLMRLQEKLKGVEEGTVLSV 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                         DQECKRNLSDIDQSFNKVAERVLMRLQEKLKGVEEGTV--LSV

Mouse                         DQECKQSLSDTDQSFNKVAERVLMRLQEKLKGVEEGTV--L

Pig                           DQECKRNLSDTDQSFNKVAERVLMRLQEKLKGVEEGTV--L

Caenorhabditis elegans        ------------PSY--ISEMAIGRLREKLRGTDDGVTA-Q

Drosophila                    ------------ESVNLVAQRALLLVQNKLDGREAGTMGDS

Baker's yeast                 KFISNNDRNENQESY-----RALKGVEEKLMGNG------L

Fission yeast                 PKIQRNNVSGESE-----AERAILKVRQKLSST-------L

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
Modified residue 2996 – 2996 Phosphoserine
Modified residue 3016 – 3016 N6-acetyllysine
Mutagenesis 3016 – 3016 K -> Q. Mimics acetylation, preventing dephosphorylation and subsequent ATM deactivation during the late stage of DNA damage response.
Mutagenesis 3016 – 3016 K -> R. Loss of DNA damage-inducible acetylation. Retains constitutive kinase activity, but blocks DNA damage-induced kinase activation. Disrupts dimer and abolishes S-1981 autophosphorylation.
Mutagenesis 3018 – 3018 K -> R. Retains DNA damage-inducible acetylation and S-1981 autophosphorylation.
Helix 3002 – 3017



Literature citations
Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.
Schaffner C.; Stilgenbauer S.; Rappold G.A.; Doehner H.; Lichter P.;
Blood 94:748-753(1999)
Cited for: POSSIBLE INVOLVEMENT IN BCLL AND MCL; VARIANTS ASN-1853; VAL-1853; ARG-1953; LYS-2418 INS; PRO-2420; GLY-2423; HIS-3008 AND ASN-3018;
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.