Variant position: 2067 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 VTYDLETAIPSSTRQAGIIQ ALQNLGLCHILSVYLKGLDYE
Mouse VTYDLETSISSSTRQSGIIQ ALQNLGLSHILSVYLKGLDYE
Pig VTYDLETAISSSTRQAGIIQ ALQNLGLCHILSVYLKGLDHE
Caenorhabditis elegans KFVYFQLFHLSTSTLEIEEA I-------------------S
Drosophila STILLESDHLDRASGQLCID IMKGNGL----------WSFA
Baker's yeast LFNNADFDANYTTSLEEEKE SLIKAT-EDSGFYGLTSLLES
Fission yeast AISYLDAANMYRSNEDEGTK MMFSNTLNNAGFFSLNEFYID
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.
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N.; Platzer M.; Rosenthal A.; Doerk T.; Bendix R.; Skawran B.; Stuhrmann M.; Wegner R.-D.; Sperling K.; Banin S.; Shiloh Y.; Baumer A.; Bernthaler U.; Sennefelder H.; Brohm M.; Weber B.H.F.; Schindler D.;
Hum. Mol. Genet. 8:69-79(1999)
Cited for: VARIANTS AT SER-570; CYS-785; GLY-1913; GLY-2016; ASP-2067; CYS-2227; ASP-2470; VAL-2662 DEL; PRO-2849 AND ARG-2867; VARIANTS CYS-49; LEU-858; ARG-1054; ASN-1853 AND VAL-1853;
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.