Variant position: 2827 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:
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 EVQKKSFEEKYEVFMDVCQN FQPVFRYFCMEKFLDPAIWFE
Mouse EVQKKSFEEKYDTFMTICQN FEPVFRYFCMEKFLDPAVWFE
Pig EAQNKSFEEKYEIFMNICQN FQPVFRYFCMEKFLDPAVWFE
Caenorhabditis elegans QVQTESTETRRQVFVEICQQ YSPVFRHFFYTNFSTAQIWRQ
Drosophila DHLKSPKETRYAIYKKICEN IKPVFHYFLLEKFPIPGVWFE
Baker's yeast AVQTKSNEERLKAYLKITNE IKPQLRNFFFDSFPDPLDWFE
Fission yeast EKQMEDLETRLKVYDLVCRH YRPVFRHFFLESYADPVQWFT
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
2 – 3056 Serine-protein kinase ATM
2686 – 2998 PI3K/PI4K catalytic
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;
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;
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;
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