Variant position: 1209 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 FMETENSSSVK--------KQKALVAK-V SQREEMVKKCLGELTEVCKSL
Mouse FMETENSSSIK--------KQKALVAK-V SQREEVVKKCLG
Chicken FHETENASAIR--------KQRASVTK-M SQREEMVKKCLG
Xenopus laevis FQDTESASSIR--------KQKASVVTNT SQREEMVKKCQA
Caenorhabditis elegans -RKRKNAGLIELSNMNIVSEAQALKERHM VKHGDVFTRCLQ
Drosophila FAVTKNAKEAKAAVGSVSDGATSSTADGQ SGMREIHERCYT
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
1197 – 1197 Phosphoserine
1199 – 1199 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
1207 – 1207 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
1227 – 1227 K -> E. Reduced ssDNA binding. No change in DNA Holliday junction binding.
1207 – 1209
No reference for the current variant in UniProtKB/Swiss-Prot.
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.