UniProtKB/Swiss-Prot Q13315: Variant p.Lys224Glu

Serine-protein kinase ATM
Gene: ATM
Feedback?

Variant information Variant position:

224 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 Lysine (K) to Glutamate (E) at position 224 (K224E, p.Lys224Glu). 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 basic (K) to medium size and acidic (E) 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; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs145053092 [ dbSNP | Ensembl ]

Sequence information Variant position:

224 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:

GLNSKFLDFFSKAIQCARQE K SSSGLNHILAALTIFLKTLA 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                         GLNSKFLDFF--------------SKAIQCARQ--EKSSSGLNHILAALTIFLKTLA

Mouse                         GLPSKFLDLF--------------SKAIQYARQ--EKSSPG

Pig                           GLNSEFLDFF--------------TKAIQNARQ--EKSSPG

Caenorhabditis elegans        LLENVDYVVFEK------------SP---------IDLMAK

Drosophila                    RVQLH-VDLVEY------------LPELSSFAL--SAFGAR

Baker's yeast                 LLALDTVGIFQV------------TRTITWTVIDFLRLSKK

Fission yeast                 FVSEQLLKFFEFFFYAYTEETDAHLPALQCLFQLCAYAIPN

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
Beta strand	223 – 225

Literature citations
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.