Variant position: 277 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 KLRFRLGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFN
Mouse KLRFRLGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFN
Rat KLRFRLGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFN
Pig KLRFRLGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFN
Bovine KFRFRLGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFN
Xenopus laevis CAPFRFGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFT
Xenopus tropicalis CAPFQLGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFT
Zebrafish KLSFRLGYHAIPSMSHVHLH VISQDFDSPCLKNKKHWNSFT
Drosophila SRNFLIGFKVNTFWNRLNLH VISNDFYSMAMKRISHWNSFN
Baker's yeast RNFVQVGIHSVPSMANLHIH VISKDFHSVRLKNKKHYNSFN
Fission yeast CNYIKVGFHAGPSMNNLHLH IMTLDHVSPSLKNSAHYISFT
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.
275 – 279
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
Date H.; Onodera O.; Tanaka H.; Iwabuchi K.; Uekawa K.; Igarashi S.; Koike R.; Hiroi T.; Yuasa T.; Awaya Y.; Sakai T.; Takahashi T.; Nagatomo H.; Sekijima Y.; Kawachi I.; Takiyama Y.; Nishizawa M.; Fukuhara N.; Saito K.; Sugano S.; Tsuji S.;
Nat. Genet. 29:184-188(2001)
Cited for: TISSUE SPECIFICITY; VARIANTS AOA LEU-220 AND GLY-277;
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
Kijas A.W.; Harris J.L.; Harris J.M.; Lavin M.F.;
J. Biol. Chem. 281:13939-13948(2006)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; DNA-BINDING; CHARACTERIZATION OF VARIANT GLY-277;
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.