Variant position: 2625 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 IICTIRSRRPQMVRSVEALC DAYIILANLDAT-QWKTQRKGI------
Mouse IIHSIRSKRCKMVKDMEALC DAYIILANMDAS-QWRAQRKG
Pig VICTLRNRRRQMVRSVEALC DAYIILANLDAT-QWRTQRKG
Caenorhabditis elegans ADQRDSSKLKEIVITIREAH QAYREIAMLDVRGNVRIQRVE
Drosophila MICEKNGTAGECSKQLESLL PALITFANEGKTNDNRPVSDS
Baker's yeast QGYDRGAFAKKYLLPVQEFC EMSVELANLKFVQNTKTLRLA
Fission yeast -LLKVNQGLSNLVTKLLCSF ENYVSLA------EWNP-RSK
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.
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
Becker-Catania S.G.; Chen G.; Hwang M.J.; Wang Z.; Sun X.; Sanal O.; Bernatowska-Matuszkiewicz E.; Chessa L.; Lee E.Y.-H.P.; Gatti R.A.;
Mol. Genet. Metab. 70:122-133(2000)
Cited for: VARIANTS AT 35-ARG--VAL-3056 DEL; CYS-49; 292-LEU; 393-TRP--VAL-3056 DEL; LEU-1082; 1171-GLN--VAL-3056 DEL; 1839-GLN--VAL-3056 DEL; GLU-2063; CYS-2227; 2246-CYS--THR-2252 DELINS HIS; 2547-AER--SER-2549 DEL; GLU-2625 AND PRO-2626;
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.