Sequence information
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:
RLGYHAIPSMSHVHLHVISQ
D FDSPCLKNKKHWNSFNTEYF
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 RLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFNTEYF
RLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFNTEYF
Mouse RLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFNTEYF
Rat RLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFNTEYF
Pig RLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFNTEYF
Bovine RLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFNTEYF
Xenopus laevis RFGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFTTDYF
Xenopus tropicalis QLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFTTDYF
Zebrafish RLGYHAIPSMSHVHLHVISQD FDSPCLKNKKHWNSFTTDYF
Drosophila LIGFKVNTFWNRLNLHVISND FYSMAMKRISHWNSFNTELF
Baker's yeast QVGIHSVPSMANLHIHVISKD FHSVRLKNKKHYNSFNTGFF
Fission yeast KVGFHAGPSMNNLHLHIMTLD HVSPSLKNSAHYISFTSPFF
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
Chain
1 – 356
Aprataxin
Domain
182 – 287
HIT
Active site
274 – 274
Tele-AMP-histidine intermediate
Site
265 – 265
Interaction with DNA substrate
Site
276 – 276
Interaction with DNA substrate
Site
291 – 291
Interaction with DNA substrate
Alternative sequence
64 – 356
Missing. In isoform 12.
Alternative sequence
196 – 356
VYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ -> PCTSSCDQPGF. In isoform 13.
Mutagenesis
274 – 274
H -> A. Abolishes enzyme activity.
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
Disclaimer:
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.