Variant position: 94 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1312 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 QETDVRAQIRLQFRDVNGEL IAVQRSMVCTQK-SKKTEFKTL
Mouse QETDVRAQIRLQFRDVNGEM VAVHRSMLCSQK-NKKTEFKT
Rat QETDVRAQIRLQFRDVNGEM VLVQRSMLCSQK-SKKTEFKT
Caenorhabditis elegans RKTRVDASVTLEFIDVKGRE CTAVRRLVVTSG-TKAAALAE
Drosophila GLNEVLAQIKMQVRDRRGAQ VSICRTMKVSKK-RNKMSFET
Slime mold GESEVKAQIKLRFKNPIGKP IVASRSLSLIQKSNKKQEYKQ
Baker's yeast GEKDIRAQVKLAFTSANGLN MIVTRNIQLLMK-KTTTTFKT
Fission yeast GEKEVLAQVKLAFRNTNQVK MICTRSLQLSVK-KTTRQQKT
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
1 – 1312 DNA repair protein RAD50
1 – 139 Missing. In isoform 3.
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: VARIANTS LEU-94 AND HIS-224;
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