Variant position: 2626 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 ICTIRSRRPQMVRSVEALCD AYIILANLDAT-QWKTQRKGI------N
Mouse IHSIRSKRCKMVKDMEALCD AYIILANMDAS-QWRAQRKGI
Pig ICTLRNRRRQMVRSVEALCD AYIILANLDAT-QWRTQRKGI
Caenorhabditis elegans DQRDSSKLKEIVITIREAHQ AYREIAMLDVRGNVRIQRVEI
Drosophila ICEKNGTAGECSKQLESLLP ALITFANEGKTNDNRPVSDSV
Baker's yeast GYDRGAFAKKYLLPVQEFCE MSVELANLKFVQNTKTLRLA-
Fission yeast LLKVNQGLSNLVTKLLCSFE NYVSLA------EWNP-RSKV
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.
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
van Belzen M.J.; Hiel J.A.P.; Weemaes C.M.R.; Gabreeels F.J.M.; van Engelen B.G.M.; Smeets D.F.C.M.; van den Heuvel L.P.W.J.;
Hum. Genet. 102:187-191(1998)
Cited for: VARIANT AT 2625-GLU-PRO-2626;
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;
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