Variant position: 215 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 QVYKDEQVVVIKDKYPKARY HWLVLPWTSISSLKAVAREHL
Mouse QVYKDDQVVVIKDKYPKARH HWLVLPWASISSLKVVTSEHL
Rat QVYKDDQVVVIKDKYPKARH HWLVLPWASISSLKVVTSEHL
Pig QVYKDDQVVVIKDKYPKARY HWLVLPWASISSLKAVTREHL
Bovine QVYKDEQVVVIKDKYPKARF HWLVLPWASISSLKAVTREHL
Xenopus laevis QVFKDDKIVVIKDKYPKARY HWLVLPWQSIASLKVLRAEHL
Xenopus tropicalis QVFKDDKVVVIKDKYPKARY HWLVLPWQSIANLKVLRAEHL
Zebrafish QVYKDDSVVVIKDKYPKARY HWLVLPWQSISSLKALRSEHV
Drosophila FLIESDRAVVMKADYPKSQY HFRVVAKEEFRDITQLTEAQL
Baker's yeast ---------AIDHIFRHFQE KFRIKKSDDDKDP--------
Fission yeast VIYYDDDVVLVRDMFPKSKM HLLLMT----RDPHLTHVHPL
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
64 – 356 Missing. In isoform 12.
196 – 356 VYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ -> PCTSSCDQPGF. In isoform 13.
215 – 222
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Shimazaki H.; Takiyama Y.; Sakoe K.; Ikeguchi K.; Niijima K.; Kaneko J.; Namekawa M.; Ogawa T.; Date H.; Tsuji S.; Nakano I.; Nishizawa M.;
Cited for: VARIANT AOA ARG-215;
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