UniProtKB/SwissProt variant VAR

Variant information

Variant position:

49

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 Serine (S) to Cysteine (C) at position 49 (S49C, p.Ser49Cys).

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 small size and polar (S) to medium size and polar (C)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

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; increases protein abundance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1800054 [ dbSNP | Ensembl ]

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----------PETIKHLDRHSDSKQGKYLNWDAVFRFLQKYIQ

Mouse                         KFKRLIQD----------PETVQHLDRHSDSKQGKYLNWDA

Pig                           NFRHLIQD----------PETVQHLDQHSDSKQGKYLNWDA

Caenorhabditis elegans        EVVLLYH-----------ALGAEALSEDNQEIYDLYDLSAR

Drosophila                    QLDEKL------------SSCREDLDKLFLSKTSD-ISWTT

Baker's yeast                 ELTTILKEDPERIPTKALSTTAEALVELLASEHTKYCDLLR

Fission yeast                 NLRSYIIYSRNGNS----LNQEDALIIEKAIKRAFELEWQI

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Ser49Cys