Variant position: 533 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 765 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 NLHP-------ELDGQEYVVEFDFLGK DSIRYYNKVPVEKRVFKNLQL
Mouse NLHP-------ELDGQEYVVEFDFPGK DSIRYYNKVPVEKR
Rat NLHP-------ELDGQEYVVEFDFPGK DSIRYYNKVPVEKR
Xenopus laevis NLFQ-------ELDGQEFVVEFDFPGK DSIRYYNKVPVEKR
Caenorhabditis elegans KLFDSAKLNEDDKKEKEFVVEFDFLGK DSIRYFNRVSVEKR
Drosophila QLHK-------ELNGKENVVVFDFPGK DSIRYYNEVEVEKR
Slime mold KLES------------NNTITLDFLGK DSMRYLNTVQIRED
Baker's yeast TLKP------------PNTVIFDFLGK DSIRFYQEVEVDKQ
Fission yeast TLKP------------PRTVVFDFLGK DSIRYYNEVEVDPQ
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 – 765 DNA topoisomerase 1
532 – 532 Interaction with DNA
549 – 549 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
532 – 532 K -> A. Almost abolishes enzyme activity.
532 – 532 K -> R. Strongly reduced enzyme activity.
532 – 534
Molecular cloning of a cDNA of a camptothecin-resistant human DNA topoisomerase I and identification of mutation sites.
Tamura H.; Kohchi C.; Yamada R.; Ikeda T.; Koiwai O.; Patterson E.; Keene J.D.; Okada K.; Kjeldsen E.; Nishikawa K.;
Nucleic Acids Res. 19:69-75(1991)
Cited for: VARIANT CPT-RESISTANT LEUKEMIA GLY-533;
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