UniProtKB/Swiss-Prot Q9NQ11: Variant p.Ile946Phe

Probable cation-transporting ATPase 13A2
Gene: ATP13A2
Chromosomal location: 1p36
Variant information

Variant position:  946
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Isoleucine (I) to Phenylalanine (F) at position 946 (I946F, p.Ile946Phe).
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 (I) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

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



Sequence information

Variant position:  946
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:   SLDTSFSVFKYMALYSLTQF  I SVLILYTINTNLGDLQFLAI
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                         SLDTSFSVFKYMALYSLTQFISVLILYTINTNLGDLQFLAI

Mouse                         SLDTSFSVFKYMALYSLTQFISVLILYTINTNLGDLQFLAI

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 Probable cation-transporting ATPase 13A2
Transmembrane 933 – 952 Helical;


Literature citations

ATP13A2 variability in Parkinson disease.
Vilarino-Guell C.; Soto A.I.; Lincoln S.J.; Ben Yahmed S.; Kefi M.; Heckman M.G.; Hulihan M.M.; Chai H.; Diehl N.N.; Amouri R.; Rajput A.; Mash D.C.; Dickson D.W.; Middleton L.T.; Gibson R.A.; Hentati F.; Farrer M.J.;
Hum. Mutat. 30:406-410(2009)
Cited for: VARIANTS SER-49; GLN-294; LEU-389; GLY-578; TRP-762; ILE-776 AND PHE-946;

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.