Sequence information
Variant position: 3003 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:
TLNADDQECKRNLSDIDQSF
N KVAERVLMRLQEKLKGVEEG
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 TLNADDQECKRNLSDIDQSFN KVAERVLMRLQEKLKGVEEG
Mouse TPNADDQECKQSLSDTDQSFN KVAERVLMRLQEKLKGVEEG
Pig TPRADDQECKRNLSDTDQSFN KVAERVLMRLQEKLKGVEEG
Caenorhabditis elegans -----------------PSY- -ISEMAIGRLREKLRGTDDG
Drosophila -----------------ESVN LVAQRALLLVQNKLDGREAG
Baker's yeast FDNVSKFISNNDRNENQESY- ----RALKGVEEKLMGNG--
Fission yeast DASRDPKIQRNNVSGESE--- --AERAILKVRQKLSST---
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.
Type Positions Description
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
3001 – 3018
Literature citations
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.
Savitsky K.; Sfez S.; Tagle D.A.; Ziv Y.; Sartiel A.; Collins F.S.; Shiloh Y.; Rotman G.;
Hum. Mol. Genet. 4:2025-2032(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT AT ASP-3003;
The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.
Vorechovsky I.; Rasio D.; Luo L.; Monaco C.; Hammarstroem L.; Webster A.D.B.; Zaloudik J.; Barbanti-Brodano G.; James M.R.; Russo G.; Croce C.M.; Negrini M.;
Cancer Res. 56:2726-2732(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT AT ASP-3003; VARIANTS CYS-49; ARG-1054; PHE-1420; ILE-2079 AND ALA-2287;
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Savitsky K.; Bar-Shira A.; Gilad S.; Rotman G.; Ziv Y.; Vanagaite L.; Tagle D.A.; Smith S.; Uziel T.; Sfez S.; Ashkenazi M.; Pecker I.; Frydman M.; Harnik R.; Patanjali S.R.; Simmons A.; Clines G.A.; Sartiel A.; Gatti R.A.; Chessa L.; Sanal O.; Lavin M.F.; Jaspers N.G.J.; Taylor A.M.R.; Arlett C.F.; Miki T.; Weissman S.M.; Lovett M.; Collins F.S.; Shiloh Y.;
Science 268:1749-1753(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1332-3056; VARIANTS 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL; SER-2860 DEL AND ASP-3003;
Molecular and functional characterization of a cohort of Spanish patients with ataxia-telangiectasia.
Carranza D.; Vega A.K.; Torres-Rusillo S.; Montero E.; Martinez L.J.; Santamaria M.; Santos J.L.; Molina I.J.;
NeuroMolecular Med. 19:161-174(2017)
Cited for: VARIANTS AT VAL-323; PRO-1046; ARG-2023; SER-2068; ASP-2080; HIS-2627; LEU-2834 AND ASP-3003; CHARACTERIZATION OF VARIANTS AT VAL-323; PRO-1046; ARG-2023; SER-2068; ASP-2080; HIS-2627; LEU-2834 AND ASP-3003; PHOSPHORYLATION;
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.