Variant position: 672 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1417 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 TKEMMKIFHKKFGLHNFRTN QLEAINAALLGEDCFILMPTG
Mouse TKEMMKIFHKKFGLHNFRTN QLEAINAALLGEDCFILMPTG
Chicken SEEMLKIFHRKFGLHSFRTN QLEAINAALLGEDCFILMPTG
Xenopus laevis SKEMMKIFHKKFGLHRFRTN QLEAINACLCGEDCFILMPTG
Caenorhabditis elegans NKELYDTLKSKFGFNQFRHR QKQCILSTLMGHDTFVLMPTG
Drosophila STRLMHGLSYSFGLKSFRPN QLQVINATLLGNDCFVLMPTG
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 – 1417 Bloom syndrome protein
668 – 672 ATP
666 – 666 H -> A. Reduced intramolecular association between both the helicase ATP-binding domain and the helicase C-terminal domain with the HRDC domain. No change in forked duplex DNA helicase activity. No change in DNA 4-way junction branch migration and Holliday junction dissolution activities. No change in suppression of enhanced sister chromatide exchange activity.
672 – 680
The Bloom's syndrome gene product is homologous to RecQ helicases.
Ellis N.A.; Groden J.; Ye T.-Z.; Straughen J.; Lennon D.J.; Ciocci S.; Proytcheva M.; German J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS BLM ARG-672; ILE-843 AND SER-1055;
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