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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22413: Variant p.Tyr513Cys

Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
Gene: ENPP1
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Variant information Variant position: help 513 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 Tyrosine (Y) to Cysteine (C) at position 513 (Y513C, p.Tyr513Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In GACI1; loss of nucleotide phosphodiesterase activity; no effect on localization to plasma membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 513 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 925 The length of the canonical sequence.
Location on the sequence: help HFLPKRLHFAKSDRIEPLTF Y LDPQWQLALNPSERKYCGSG 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                         HFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSER-KYCGSG

Mouse                         PFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSER-KYCGS

Rat                           HFLPKRLHFAKNDRIEPLTFYLDPQWQLALNPSER-KYCGS

Caenorhabditis elegans        SDVPTRKHYSRDPRVGEV--LLEGRAGVTFYKSKADDYELS
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 – 925 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
Chain 103 – 925 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1, secreted form
Topological domain 98 – 925 Extracellular
Region 191 – 591 Phosphodiesterase
Binding site 532 – 532
Disulfide bond 431 – 530
Disulfide bond 480 – 868
Beta strand 509 – 514



Literature citations
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F.; Boeyer P.; Nitschke Y.; Ruf N.; Lorenz-Depierieux B.; Wittkampf T.; Weissen-Plenz G.; Fischer R.J.; Mughal Z.; Gregory J.W.; Davies J.H.; Loirat C.; Strom T.M.; Schnabel D.; Nuernberg P.; Terkeltaub R.;
Circ. Cardiovasc. Genet. 1:133-140(2008)
Cited for: VARIANTS GACI1 ARG-126; TYR-216; GLU-242; LEU-250; ASN-276; THR-305; VAL-342; LYS-349; PHE-371; GLN-456; CYS-471; TRP-481; PRO-500; ARG-504; CYS-513; CYS-570; PHE-579; CYS-659; ARG-726; ARG-777; SER-792; HIS-804 AND TRP-888; VARIANTS VAL-611; LYS-668; CYS-774 AND HIS-821; Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Stella J.; Buers I.; van de Wetering K.; Hoehne W.; Rutsch F.; Nitschke Y.;
Hum. Mutat. 37:1190-1201(2016)
Cited for: VARIANTS GACI1 ARG-195; SER-195 AND CYS-301; CHARACTERIZATION OF VARIANTS GLN-173; LYS-668; CYS-774 AND HIS-821; CHARACTERIZATION OF VARIANTS GACI1 ARG-195; SER-195; CYS-301; THR-305; CYS-471; ARG-504; CYS-513; HIS-538; ARG-586; CYS-659; ARG-777 AND TRP-888; FUNCTION; SUBCELLULAR LOCATION;
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.