Sequence information
Variant position: 2702 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:
TIQSFKAEFRLAGGVNLPKI
I DCVGSDGKERRQLVKGRDDL
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 TIQSFKAEFRLAG-GVNLPKII DCVGSDGKERRQLVKG-RDDL
Mouse TIKSFKTEFRLAG-GLNLPKII DCVGSDGKERRQLVKG-RD
Pig TIQSFKPEFRLAG-GLNLPKII DCVGSDGKERRQLVKG-RD
Caenorhabditis elegans TWKRWKDVFTIAD-GISTPKIW EIEGSDGKWYKTVWK--KD
Drosophila SVVKWTNETTQCG-GLNAPVKI MCVCSDGKIRAQLVKG-KD
Baker's yeast YIVSVNETVGITTTGLSLPKIV TFNISDGTTQKALMKGSND
Fission yeast TVSSFDDTIHFAS-GINAPKVI TCLGSNGHTYKQLVKGGND
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
2685 – 2685
S -> T. No effect on phosphorylation of target proteins.
Mutagenesis
2699 – 2699
P -> L. Loss of phosphorylation of target proteins.
Mutagenesis
2708 – 2708
D -> N. Decreased phosphorylation of target proteins.
Beta strand
2700 – 2709
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.