UniProtKB/Swiss-Prot Q13315: Variant p.Thr2438Ile

Serine-protein kinase ATM
Gene: ATM
Feedback?

Variant information Variant position:

2438 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 Threonine (T) to Isoleucine (I) at position 2438 (T2438I, p.Thr2438Ile). 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 medium size and polar (T) to medium size and hydrophobic (I) 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
Other resources:

Links to websites of interest for the variant.

Variant rs147604227 [ dbSNP | Ensembl ]

Sequence information Variant position:

2438 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:

KRAKEEVGLLREHKIQTNRY T VKVQRELELDELALRALKED 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                         KRAKEEVGLLREHKIQ--------TNR-YTVKVQRELELDELALRALKED

Mouse                         KRAKEEVGLLREHKIQ--------TNR-YTVKVQRELELDE

Pig                           KRAKEEVGLLREHKIQ--------TNR-YTIKVQRELELDE

Caenorhabditis elegans        TAFEQQIQNSCRTSLARGNSGDEWTKK-TVQRVRKEHQFEK

Drosophila                    EQNRQTAEKVTQRENQ--------DRRVISVQMKRYASLDE

Baker's yeast                 KSTLKALELIYKNTKLPENERK--DAKRHYNRVLLQYNRDS

Fission yeast                 FEKKNDIQQLERSIVNASNMKEEKMLKNHHSREMSSFIIDE

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	1940 – 2566	FAT
Mutagenesis	2452 – 2452	L -> P. Loss of phosphorylation of target proteins.
Helix	2437 – 2475

Literature citations
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Wright J.; Teraoka S.; Onengut S.; Tolun A.; Gatti R.A.; Ochs H.D.; Concannon P.;
Am. J. Hum. Genet. 59:839-846(1996)
Cited for: VARIANT AT 2546-SER--ILE-2548 DEL; VARIANT ILE-2438; Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
Li A.; Swift M.;
Am. J. Med. Genet. 92:170-177(2000)
Cited for: VARIANTS AT GLU-224; VAL-323; PRO-1420; CYS-2218; 2546-SER--ILE-2548 DEL; GLN-2625; CYS-2832; 2855-SER-VAL-2856 DELINS ARG-ILE AND CYS-3008; VARIANTS VAL-1853 AND ILE-2438;

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.