Variant position: 45 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 KEVEKFKRLIRD----------PETIKHLD RHSDSKQGKYLNWDAVFRFLQ
Mouse KEVDKFKRLIQD----------PETVQHLD RHSDSKQGKYL
Pig KAVENFRHLIQD----------PETVQHLD QHSDSKQGKYL
Caenorhabditis elegans KIVDEVVLLYH-----------ALGAEALS EDNQEIYDLYD
Drosophila KGIQQLDEKL------------SSCREDLD KLFLSKTSD-I
Baker's yeast NALDELTTILKEDPERIPTKALSTTAEALV ELLASEHTKYC
Fission yeast DALQNLRSYIIYSRNGNS----LNQEDALI IEKAIKRAFEL
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.
Type Positions Description
2 – 3056 Serine-protein kinase ATM
37 – 49
ATM mutations in Finnish breast cancer patients.
Allinen M.; Launonen V.; Laake K.; Jansen L.; Huusko P.; Kaeaeriaeinen H.; Boerresen-Dale A.L.; Winqvist R.;
J. Med. Genet. 39:192-196(2002)
Cited for: VARIANTS TRP-45 AND CYS-49;
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