Variant position: 2855 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 CMEKFLDPAIWFEKRLAYTR SVATSSIVGYILGLGDRHVQN
Mouse CMEKFLDPAVWFEKRLAYTR SVATSSIVGYILGLGDRHVQN
Pig CMEKFLDPAVWFERRLAYTQ SVATSSIVGYILGLGDRHVQN
Caenorhabditis elegans FYTNFSTAQIWRQKIINYRQ SLATWSIVCYIVGLGDRHASN
Drosophila LLEKFPIPGVWFERRLAYTN SVATTSMVGYVLGLGDRHTQN
Baker's yeast FFDSFPDPLDWFEAKKTYTK GVAASSIVGYILGLGDRHLNN
Fission yeast FLESYADPVQWFTTQTNYAR STAVASVLGHVLGLGDRHGQN
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.
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;
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.