UniProtKB/SwissProt variant VAR

Variant information

Variant position:

281

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Aspartate (D) to Glycine (G) at position 281 (D281G, p.Asp281Gly).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from medium size and acidic (D) to glycine (G)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In AOA; heterozygous.

Any additional useful information about the variant.

Sequence information

Variant position:

281

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:

RLGYHAIPSMSHVHLHVISQ D FDSPCLKNKKHWNSFNTEYF

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                         RLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYF

                              RLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYF

Mouse                         RLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYF

Rat                           RLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYF

Pig                           RLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYF

Bovine                        RLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYF

Xenopus laevis                RFGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFTTDYF

Xenopus tropicalis            QLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFTTDYF

Zebrafish                     RLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFTTDYF

Drosophila                    LIGFKVNTFWNRLNLHVISNDFYSMAMKRISHWNSFNTELF

Baker's yeast                 QVGIHSVPSMANLHIHVISKDFHSVRLKNKKHYNSFNTGFF

Fission yeast                 KVGFHAGPSMNNLHLHIMTLDHVSPSLKNSAHYISFTSPFF

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
Active site	274 – 274	Tele-AMP-histidine intermediate
Site	265 – 265	Interaction with DNA substrate
Site	276 – 276	Interaction with DNA substrate
Site	291 – 291	Interaction with DNA substrate
Alternative sequence	64 – 356	Missing. In isoform 12.
Alternative sequence	196 – 356	VYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ -> PCTSSCDQPGF. In isoform 13.
Mutagenesis	274 – 274	H -> A. Abolishes enzyme activity.

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7Z2E3: Variant p.Asp281Gly