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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02810: Variant p.Ile42Leu

Salivary acidic proline-rich phosphoprotein 1/2
Gene: PRH2
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Variant information Variant position: help 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Isoleucine (I) to Leucine (L) at position 42 (I42L, p.Ile42Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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

Polymorphism: help Sequence shown is that of allele PRH1-PIF, which is the most frequent allele (68% of the population). The PRH1-DB allele (about 16% of the population) has an insertion of 21 repeated amino acids compared to the PRH1-PIF allele. Allele PRH2-2, also known as PR-2, allele PRH2-1 is also known as PR-1 or protein C, and allele PRH2-3 as PR-1'. In contrast to all other PRH1 and PRH2 alleles, the PRH1-PA allele (16%) is not proteolytically cleaved. Additional information on the polymorphism described.
Variant description: help In allele PRH1-PA and allele PRH1-DB. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 166 The length of the canonical sequence.
Location on the sequence: help DVSQEDVPLVISDGGDSEQF I DEERQGPPLGGQQSQPSAGD 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.
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 17 – 166 Salivary acidic proline-rich phosphoprotein 1/2
Chain 17 – 122 Salivary acidic proline-rich phosphoprotein 3/4
Region 16 – 166 Disordered
Region 17 – 46 Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium
Modified residue 24 – 24 Phosphoserine; by FAM20C
Modified residue 33 – 33 Phosphoserine; alternate
Modified residue 38 – 38 Phosphoserine; by FAM20C; alternate
Glycosylation 33 – 33 O-linked (GlcA) serine; alternate
Glycosylation 38 – 38 O-linked (GlcA) serine; alternate
Mutagenesis 24 – 24 S -> A. Decreased phosphorylation by FAM20C; when associated with A-38.
Mutagenesis 38 – 38 S -> A. Decreased phosphorylation by FAM20C; when associated with A-24.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.