Variant position: 211 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 DPKMQVYKDEQVVVIKDKYP KARYHWLVLPWTSISSLKAVA
Mouse DPKMQVYKDDQVVVIKDKYP KARHHWLVLPWASISSLKVVT
Rat DPKMQVYKDDQVVVIKDKYP KARHHWLVLPWASISSLKVVT
Pig DPKMQVYKDDQVVVIKDKYP KARYHWLVLPWASISSLKAVT
Bovine DPKMQVYKDEQVVVIKDKYP KARFHWLVLPWASISSLKAVT
Xenopus laevis DPTMQVFKDDKIVVIKDKYP KARYHWLVLPWQSIASLKVLR
Xenopus tropicalis DPTMQVFKDDKVVVIKDKYP KARYHWLVLPWQSIANLKVLR
Zebrafish DPKMQVYKDDSVVVIKDKYP KARYHWLVLPWQSISSLKALR
Drosophila DKRNFLIESDRAVVMKADYP KSQYHFRVVAKEEFRDITQLT
Baker's yeast -------------AIDHIFR HFQEKFRIKKSDDDKDP----
Fission yeast SYKNVIYYDDDVVLVRDMFP KSKMHLLLMT----RDPHLTH
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
207 – 211 Interaction with DNA substrate
64 – 356 Missing. In isoform 12.
196 – 356 VYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ -> PCTSSCDQPGF. In isoform 13.
211 – 213
Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
Tumbale P.; Williams J.S.; Schellenberg M.J.; Kunkel T.A.; Williams R.S.;
Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 179-356 IN COMPLEXES WITH DNA; RNA; ZINC; AMP AND ADENOSINE-5'-VANADATE; FUNCTION; CATALYTIC ACTIVITY; ACTIVE SITE; CHARACTERIZATION OF VARIANT AOA GLN-211;
Phenotypic variability of aprataxin gene mutations.
Tranchant C.; Fleury M.; Moreira M.-C.; Koenig M.; Warter J.-M.;
Cited for: VARIANT AOA GLN-211;
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.