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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22413: Variant p.Gly219Arg

Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
Gene: ENPP1
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Variant information Variant position: help 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Glycine (G) to Arginine (R) at position 219 (G219R, p.Gly219Arg). 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 glycine (G) to large size and basic (R) 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 ARHR2; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 219 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 NEPQCPAGFETPPTLLFSLD G FRAEYLHTWGGLLPVISKLK 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                         NEPQCPAGFETPPTLLFSLDGFRAEYLHTWGGLLPVISKLK

Mouse                         DTPECPAEFESPPTLLFSLDGFRAEYLHTWGGLLPVISKLK

Rat                           DAPQCPAEFESPPTLLFSLDGFRAEYLHTWGGLLPVISKLK

Caenorhabditis elegans        GKCEL-SGYTKPPLVILSLDGFAREYVDR--NIVQTLNHIA

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 218 – 218
Binding site 218 – 218
Disulfide bond 195 – 241
Disulfide bond 203 – 415



Literature citations
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
Steichen-Gersdorf E.; Lorenz-Depiereux B.; Strom T.M.; Shaw N.J.;
J. Pediatr. Endocrinol. Metab. 28:967-970(2015)
Cited for: VARIANTS ARHR2 ASP-92; ARG-219 AND SER-792; INVOLVEMENT IN ARHR2;
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.