UniProtKB/Swiss-Prot Q13315: Variant p.Ala2726Val

Serine-protein kinase ATM
Gene: ATM
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Variant information Variant position:

2726 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Alanine (A) to Valine (V) at position 2726 (A2726V, p.Ala2726Val). 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 hydrophobic (A) to medium size and hydrophobic (V) 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
Variant description:

In AT; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

2726 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:

GSDGKERRQLVKGRDDLRQD A VMQQVFQMCNTLLQRNTETR 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                         GSDGKERRQLVKG-RDDLRQDAVMQQVFQMCNTLLQRNTETR

Mouse                         GSDGKERRQLVKG-RDDLRQDAVMQQVFQMCNTLLQRNTET

Pig                           GSDGKERRQLVKG-RDDLRQDAVMQQVFQMCNTLLQRNTET

Caenorhabditis elegans        GSDGKWYKTVWK--KDDVRQDVLVEQMFDVTNNMLE-----

Drosophila                    CSDGKIRAQLVKG-KDDLRQDAVMQQVFGIVNELLNQDSEF

Baker's yeast                 ISDGTTQKALMKGSNDDLRQDAIMEQVFQQVNKVLQNDKVL

Fission yeast                 GSNGHTYKQLVKGGNDDLRQDAVMEQVFEQVNGFLRSYRKT

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
Domain	2686 – 2998	PI3K/PI4K catalytic
Mutagenesis	2708 – 2708	D -> N. Decreased phosphorylation of target proteins.
Mutagenesis	2730 – 2730	Q -> P. Loss of phosphorylation of target proteins.
Helix	2723 – 2740

Literature citations
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;

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.