Sequence information
Variant position: 49 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:
KFKRLIRDPETIKHLDRHSD
S KQGKYLNWDAVFRFLQKYIQ
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 KFKRLIRD----------PETIKHLDRHSDS KQGKYLNWDAVFRFLQKYIQ
Mouse KFKRLIQD----------PETVQHLDRHSDS KQGKYLNWDA
Pig NFRHLIQD----------PETVQHLDQHSDS KQGKYLNWDA
Caenorhabditis elegans EVVLLYH-----------ALGAEALSEDNQE IYDLYDLSAR
Drosophila QLDEKL------------SSCREDLDKLFLS KTSD-ISWTT
Baker's yeast ELTTILKEDPERIPTKALSTTAEALVELLAS EHTKYCDLLR
Fission yeast NLRSYIIYSRNGNS----LNQEDALIIEKAI KRAFELEWQI
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
Helix
37 – 49
Literature citations
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;
ATM mutations in cancer families.
Vorechovsky I.; Luo L.; Lindblom A.; Negrini M.; Webster A.D.B.; Croce C.M.; Hammarstroem L.;
Cancer Res. 56:4130-4133(1996)
Cited for: VARIANTS 705-PHE--PRO-707 AND 2546-SER--ILE-2548 DEL; VARIANTS CYS-49; LEU-858; ARG-1054; PHE-1420 AND ARG-1691;
Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.
Izatt L.; Greenman J.; Hodgson S.V.; Ellis D.; Watts S.; Scott G.; Jacobs C.; Liebmann R.; Zvelebil M.J.; Mathew C.; Solomon E.;
Genes Chromosomes Cancer 26:286-294(1999)
Cited for: VARIANTS CYS-49; LEU-182; PRO-707; LEU-858; PHE-1420; ALA-1570; ASN-1853 AND SER-2765;
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N.; Platzer M.; Rosenthal A.; Doerk T.; Bendix R.; Skawran B.; Stuhrmann M.; Wegner R.-D.; Sperling K.; Banin S.; Shiloh Y.; Baumer A.; Bernthaler U.; Sennefelder H.; Brohm M.; Weber B.H.F.; Schindler D.;
Hum. Mol. Genet. 8:69-79(1999)
Cited for: VARIANTS AT SER-570; CYS-785; GLY-1913; GLY-2016; ASP-2067; CYS-2227; ASP-2470; VAL-2662 DEL; PRO-2849 AND ARG-2867; VARIANTS CYS-49; LEU-858; ARG-1054; ASN-1853 AND VAL-1853;
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
Castellvi-Bel S.; Sheikhavandi S.; Telatar M.; Tai L.-Q.; Hwang M.J.; Wang Z.; Yang Z.; Cheng R.; Gatti R.A.;
Hum. Mutat. 14:156-162(1999)
Cited for: VARIANTS AT CYS-49; 375-GLN--VAL-3056 DEL; 1466-ARG--VAL-3056 DEL; 1730-ARG--VAL-3056 DEL; GLY-2016; 2224-MET--ARG-2227 DELINS ILE-SER; 2246-CYS--THR-2252 DELINS HIS; VAL-2664 DEL; VAL-2726; 2849-ARG--VAL-3056 DEL AND ARG-2855;
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
Becker-Catania S.G.; Chen G.; Hwang M.J.; Wang Z.; Sun X.; Sanal O.; Bernatowska-Matuszkiewicz E.; Chessa L.; Lee E.Y.-H.P.; Gatti R.A.;
Mol. Genet. Metab. 70:122-133(2000)
Cited for: VARIANTS AT 35-ARG--VAL-3056 DEL; CYS-49; 292-LEU; 393-TRP--VAL-3056 DEL; LEU-1082; 1171-GLN--VAL-3056 DEL; 1839-GLN--VAL-3056 DEL; GLU-2063; CYS-2227; 2246-CYS--THR-2252 DELINS HIS; 2547-AER--SER-2549 DEL; GLU-2625 AND PRO-2626;
ATM mutations in Finnish breast cancer patients.
Allinen M.; Launonen V.; Laake K.; Jansen L.; Huusko P.; Kaeaeriaeinen H.; Boerresen-Dale A.L.; Winqvist R.;
J. Med. Genet. 39:192-196(2002)
Cited for: VARIANTS TRP-45 AND CYS-49;
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-23; CYS-49; GLU-126; HIS-140; GLN-250; PHE-333; CYS-337; HIS-337; ALA-410; SER-504; ASP-514; TYR-540; VAL-546; LEU-582; PRO-707; GLN-848; LEU-858; SER-872; TRP-924; ALA-935; ARG-1054; PHE-1179; ILE-1321; TYR-1380; SER-1382; PHE-1420; MET-1469; CYS-1475; SER-1650; THR-1739; ASN-1853; VAL-1853; ILE-1916; THR-1945; CYS-1961; ASP-1991; PHE-2307; PRO-2332; PHE-2356; LEU-2408; PRO-2442; GLN-2443; ARG-2464; ARG-2492; ALA-2666; HIS-2719; ARG-2842 AND ASN-2870;
ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.
Brunet J.; Gutierrez-Enriquez S.; Torres A.; Berez V.; Sanjose S.; Galceran J.; Izquierdo A.; Menendez J.A.; Guma J.; Borras J.;
Clin. Genet. 73:465-473(2008)
Cited for: VARIANTS CYS-49; LEU-858; ARG-1054; VAL-1255; ASN-1853; THR-2105; SER-2396 AND HIS-2719;
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.