UniProtKB/Swiss-Prot Q13315: Variant p.Phe858Leu

Serine-protein kinase ATM
Gene: ATM
Feedback?

Variant information Variant position:

858 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Phenylalanine (F) to Leucine (L) at position 858 (F858L, p.Phe858Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs1800056 [ dbSNP | Ensembl ]

Sequence information Variant position:

858 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:

MEDDTNGNLMEVEDQSSMNL F NDYPDSSVSDANEPGESQST 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                         MEDDTNG----NLMEVE------DQSSMNLFNDYPDSSVSDANEPGE----SQST

Mouse                         GEDDEDGGGCDSLMEAE------GPSSTGLSTAYPASSVSD

Pig                           MEDDTDK----NLMEMN------DQSSMSLFNDNPASSVID

Caenorhabditis elegans        -----------DLCQWS------DR----------------

Drosophila                    -----------MLVEFV------G-AALKLHSMQRERSV-D

Baker's yeast                 -----------DFIRMQKNKSQTGTSAINYFEASSEDTTQN

Fission yeast                 QEEE-------DIYRPE-----------NLIR---------

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

Literature citations
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-TYR--SER-707 DELINS PHE-ILE-PRO AND 2546-SER--ILE-2548 DEL; VARIANTS CYS-49; LEU-858; ARG-1054; PHE-1420 AND ARG-1691; Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.
Vorechovsky I.; Luo L.; Prudente S.; Chessa L.; Russo G.; Kanariou M.; James M.R.; Negrini M.; Webster A.D.B.; Hammarstroem L.;
Eur. J. Hum. Genet. 4:352-355(1996)
Cited for: VARIANT AT 705-TYR--SER-707 DELINS PHE-ILE-PRO; VARIANTS LEU-858 AND ARG-1054; ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
Broeks A.; de Klein A.; Floore A.N.; Muijtjens M.; Kleijer W.J.; Jaspers N.G.J.; van 't Veer L.J.;
Hum. Mutat. 12:330-337(1998)
Cited for: VARIANTS AT LEU-858; ARG-1054; ASP-1091 AND ARG-1566; 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; 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; Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N.; Chouery E.; Haidar Z.; Khater C.; Atallah D.; Ali H.; Marafie M.J.; Al-Mulla M.R.; Al-Mulla F.; Megarbane A.;
BMC Med. Genomics 10:8-8(2017)
Cited for: VARIANTS ALA-661; PRO-707; LEU-858; TRP-924; ARG-1054; ARG-1691 AND VAL-1853;

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.