Variant position: 1001 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:
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 RRDQDVCKTILNHVLHVVKN LGQSNMDSENTRDAQGQFLTV
Mouse RRDQDVCKTILSNVLHIVTN LGQGSVDMESTRIAQGHFLTV
Pig RRDQDVCKTILNHVLHIVPN LCRENVDAESTRDAQGQFLTV
Caenorhabditis elegans KRFEKYSFLLS------IRN LIVTRMIITN---------EA
Drosophila HQDAELMDKVVQHMPTIFYF VRHKENHLDD-------MLMA
Baker's yeast SSSNQAMLLLTSYIEAIRPQ WLSYPEQPLN---------SD
Fission yeast ERDEVYLMIFI----KIFQK CVHSKLQFTD---------AT
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.
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
Stankovic T.; Kidd A.M.J.; Sutcliffe A.; McGuire G.M.; Robinson P.; Weber P.; Bedenham T.; Bradwell A.R.; Easton D.F.; Lennox G.G.; Haites N.; Byrd P.J.; Taylor A.M.R.;
Am. J. Hum. Genet. 62:334-345(1998)
Cited for: POSSIBLE INVOLVEMENT IN TALL; VARIANTS AT LEU-292; ASP-768; GLN-1001; ARG-1691; ILE-1743; GLY-2424; 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL; ASP-2554; GLY-2668 AND CYS-2827;
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.