UniProtKB/Swiss-Prot P02810: Variant p.Ile42Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: 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: 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: 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: 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: In allele PRH1-PA and allele PRH1-DB. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs2923234 [ dbSNP | Ensembl ]

Sequence information

Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 166 The length of the canonical sequence.
Location on the sequence: 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: 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.

Type	Positions	Description
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.