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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBH6: Variant p.Asn619Asp

Solute carrier family 53 member 1
Gene: XPR1
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Variant information Variant position: help 619 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Asparagine (N) to Aspartate (D) at position 619 (N619D, p.Asn619Asp). 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: help Change from medium size and polar (N) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In IBGC6; phosphate efflux is impaired; present at the plasma membrane. Any additional useful information about the variant.


Sequence information Variant position: help 619 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 696 The length of the canonical sequence.
Location on the sequence: help LEVFRRFVWNFFRLENEHLN N CGEFRAVRDISVAPLNADDQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LEVFRRFVWNFFRLENEHLNNCGEFRAVRDISVAPLNADDQ

Mouse                         LEVFRRFVWNFFRLENEHLNNCGEFRAVRDISVAPLNADDQ

Drosophila                    LEVFRRFIWNYFRLENEHLNNVGKFRAVRDISVAPMDCSDQ
Sequence annotation in neighborhood: help 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 – 696 Solute carrier family 53 member 1
Topological domain 529 – 696 Cytoplasmic
Domain 439 – 643 EXS
Mutagenesis 612 – 696 Missing. Loss of localization to the plasma membrane.
Helix 617 – 619



Literature citations
Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification.
Lopez-Sanchez U.; Nicolas G.; Richard A.C.; Maltete D.; Charif M.; Ayrignac X.; Goizet C.; Touhami J.; Labesse G.; Battini J.L.; Sitbon M.;
Sci. Rep. 9:6776-6776(2019)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; INVOLVEMENT IN IBGC6; VARIANTS IBGC6 CYS-459; ASP-619 AND SER-629; CHARACTERIZATION OF VARIANTS IBGC6 CYS-459; ASP-619 AND SER-629; MUTAGENESIS OF 612-LEU--THR-696;
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.