Variant position: 305 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 708 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 GLLRIK-GRKMNMHKIPLHTV RQFFMEDIVLANHPD----IFNPDN
Mouse GLLRIK-GRKMNMQKLPLRTV RRFFIEDVVLANHPN----L
Rat GLLRVK-GRKMNMQKLPLRTV RQFFMEDVVLANHPS----L
Chicken GLLRVK-GKKMKMQRIALETV RTFYMEDVVLADHPE----L
Xenopus laevis GLLRIK-GKKMNMQKIPLQTV RQFFIEDLVLSDYPD----I
Caenorhabditis elegans FLIKIK-GRKFASKPIPLQTV RPMVCDELLLDKIPPGSRPI
Baker's yeast FILDIKYGEAPKMTPIPLETI RTFKMKSISLQDVPH-----
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 – 708 Double-strand break repair protein MRE11
Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.
Heikkinen K.; Karppinen S.-M.; Soini Y.; Maekinen M.; Winqvist R.;
J. Med. Genet. 40:E131-E131(2003)
Cited for: VARIANT OVARIAN CANCER TRP-305;
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