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UniProtKB/Swiss-Prot Q9NQ11: Variant p.Leu1059Arg

Polyamine-transporting ATPase 13A2
Gene: ATP13A2
Variant information

Variant position:  1059
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 Leucine (L) to Arginine (R) at position 1059 (L1059R, p.Leu1059Arg).
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 hydrophobic (L) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 KRS; the mutant protein is retained in the endoplasmic reticulum.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1059
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1180
The length of the canonical sequence.

Location on the sequence:   PDNLPNYENTVVFSLSSFQY  L ILAAAVSKGAPFRRPLYTNV
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                         PDNLPNYENTVVFSLSSFQYLILAAAVSKGAPFRRPLYTNV

Mouse                         PDNLPNYENTVVFSLSGFQYLILAAAVSKGAPFRQPLYTNV

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.

TypePositionsDescription
Chain 1 – 1180 Polyamine-transporting ATPase 13A2
Transmembrane 1049 – 1069 Helical
Mutagenesis 1067 – 1067 K -> A. Reduced spermine-induced ATPase activity.


Literature citations

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Park J.S.; Mehta P.; Cooper A.A.; Veivers D.; Heimbach A.; Stiller B.; Kubisch C.; Fung V.S.; Krainc D.; Mackay-Sim A.; Sue C.M.;
Hum. Mutat. 32:956-964(2011)
Cited for: VARIANT KRS ARG-1059; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT KRS ARG-1059;

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.