Variant position: 293 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 VHLHVISQDFDSPCLKNKKH WNSFNTEYFLESQAVIEMVQE
Mouse VHLHVISQDFDSPCLKNKKH WNSFNTEYFLESQAVIKMVQE
Rat VHLHVISQDFDSPCLKNKKH WNSFNTEYFLESQAVIKMVQE
Pig VHLHVISQDFDSPCLKNKKH WNSFNTEYFLESQAVIEMVQE
Bovine VHLHVISQDFDSPCLKNKKH WNSFNTEYFLESQAVIEMVQE
Xenopus laevis VHLHVISQDFDSPCLKNKKH WNSFTTDYFLESQAVIEMLKT
Xenopus tropicalis VHLHVISQDFDSPCLKNKKH WNSFTTDYFLESQAMIEMIKT
Zebrafish VHLHVISQDFDSPCLKNKKH WNSFTTDYFVESQDVISMLEH
Drosophila LNLHVISNDFYSMAMKRISH WNSFNTELFMPFQIAYMMLSV
Baker's yeast LHIHVISKDFHSVRLKNKKH YNSFNTGFFISWDD----LPL
Fission yeast LHLHIMTLDHVSPSLKNSAH YISFTSPFFVKIDTPTSNLPT
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
274 – 274 Tele-AMP-histidine intermediate
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.
290 – 297
Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies.
Le Ber I.; Moreira M.-C.; Rivaud-Pechoux S.; Chamayou C.; Ochsner F.; Kuntzer T.; Tardieu M.; Saied G.; Habert M.-O.; Demarquay G.; Tannier C.; Beis J.-M.; Brice A.; Koenig M.; Duerr A.;
Cited for: VARIANTS AOA VAL-212; GLY-277 AND ARG-293;
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.