Sequence information
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:
QVYKDEQVVVIKDKYPKARY
H WLVLPWTSISSLKAVAREHL
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 QVYKDEQVVVIKDKYPKARYH WLVLPWTSISSLKAVAREHL
QVYKDEQVVVIKDKYPKARYH WLVLPWASVSSLKAVTGEHL
Mouse QVYKDDQVVVIKDKYPKARHH WLVLPWASISSLKVVTSEHL
Rat QVYKDDQVVVIKDKYPKARHH WLVLPWASISSLKVVTSEHL
Pig QVYKDDQVVVIKDKYPKARYH WLVLPWASISSLKAVTREHL
Bovine QVYKDEQVVVIKDKYPKARFH WLVLPWASISSLKAVTREHL
Xenopus laevis QVFKDDKIVVIKDKYPKARYH WLVLPWQSIASLKVLRAEHL
Xenopus tropicalis QVFKDDKVVVIKDKYPKARYH WLVLPWQSIANLKVLRAEHL
Zebrafish QVYKDDSVVVIKDKYPKARYH WLVLPWQSISSLKALRSEHV
Drosophila FLIESDRAVVMKADYPKSQYH FRVVAKEEFRDITQLTEAQL
Baker's yeast ---------AIDHIFRHFQEK FRIKKSDDDKDP--------
Fission yeast VIYYDDDVVLVRDMFPKSKMH LLLMT----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
Chain
1 – 356
Aprataxin
Domain
182 – 287
HIT
Alternative sequence
64 – 356
Missing. In isoform 12.
Alternative sequence
196 – 356
VYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ -> PCTSSCDQPGF. In isoform 13.
Beta strand
215 – 222
Literature citations
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.;
Neurology 59:590-595(2002)
Cited for: VARIANT AOA ARG-215;
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.