Variant position: 2491 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 IN-CLLSGEEHDM---------WVFRLCSL WLENSGVSEVNGMMKRDGM-KI
Mouse IN-CLLSGEEHDL---------WVFRLCSL WLENSGVSEVN
Pig IN-CLLSGEGHDM---------WIFRLCSL WLENSGVSEVN
Caenorhabditis elegans FDALLCISQLEDDDEAIRASSLIIFPLIDV IYKYETDVGVI
Drosophila MAYCRLDSGFSSA---------AIYRIISL WFTNATSKQCQ
Baker's yeast LNTLVFSNRYDND---------IIDKFCGL WFENDDNSKIN
Fission yeast LK-CLSESDENDV---------LISRCCTM WLSNSHLDELN
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 in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.
Fukao T.; Song X.-Q.; Yoshida T.; Tashita H.; Kaneko H.; Teramoto T.; Inoue R.; Katamura K.; Mayumi M.; Hiratani M.; Taniguchi N.; Arai J.; Wakiguchi H.; Bar-Shira A.; Shiloh Y.; Kondo N.;
Hum. Mutat. 12:338-343(1998)
Cited for: VARIANTS AT ARG-2491 AND GLY-2909;
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