Variant position: 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 356 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 RLGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFNTEYF
Mouse RLGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFNTEYF
Rat RLGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFNTEYF
Pig RLGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFNTEYF
Bovine RLGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFNTEYF
Xenopus laevis RFGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFTTDYF
Xenopus tropicalis QLGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFTTDYF
Zebrafish RLGYHAIPSMSHVHLHVISQ DFDSPCLKNKKHWNSFTTDYF
Drosophila LIGFKVNTFWNRLNLHVISN DFYSMAMKRISHWNSFNTELF
Baker's yeast QVGIHSVPSMANLHIHVISK DFHSVRLKNKKHYNSFNTGFF
Fission yeast KVGFHAGPSMNNLHLHIMTL DHVSPSLKNSAHYISFTSPFF
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 – 356 Aprataxin
182 – 287 HIT
274 – 274 Tele-AMP-histidine intermediate
265 – 265 Interaction with DNA substrate
276 – 276 Interaction with DNA substrate
291 – 291 Interaction with DNA substrate
64 – 356 Missing. In isoform 12.
196 – 356 VYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ -> PCTSSCDQPGF. In isoform 13.
274 – 274 H -> A. Abolishes enzyme activity.
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.