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UniProtKB/Swiss-Prot P24158: Variant p.Val119Ile

Myeloblastin
Gene: PRTN3
Variant information

Variant position:  119
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 Valine (V) to Isoleucine (I) at position 119 (V119I, p.Val119Ile).
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:  3
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  256
The length of the canonical sequence.

Location on the sequence:   HFSVAQVFLNNYDAENKLND  V LLIQLSSPANLSASVATVQL
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         HFSVAQVFLNNYDAENKLNDVLLIQLSSPANLSASVATVQL

Mouse                         KFTISQVFQNNYNPEENLNDVLLLQLNRTASLGKEVAVASL

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.

TypePositionsDescription
Chain 28 – 248 Myeloblastin
Domain 28 – 248 Peptidase S1
Active site 118 – 118 Charge relay system
Glycosylation 129 – 129 N-linked (GlcNAc...) asparagine


Literature citations

Wegener autoantigen and myeloblastin are encoded by a single mRNA.
Labbaye C.; Musette P.; Cayre Y.E.;
Proc. Natl. Acad. Sci. U.S.A. 88:9253-9256(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ILE-119; THR-135 AND SER-136;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ILE-119;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ILE-119;

Donor-recipient polymorphism of the proteinase 3 gene: a potential target for T-cell alloresponses to myeloid leukemia.
Clave E.; Molldrem J.; Hensel N.; Raptis A.; Barrett A.J.;
J. Immunother. 22:1-6(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-200; VARIANT ILE-119;

Down-regulation of a serine protease, myeloblastin, causes growth arrest and differentiation of promyelocytic leukemia cells.
Bories D.; Raynal M.-C.; Solomon D.H.; Darzynkiewicz Z.; Cayre Y.E.;
Cell 59:959-968(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-256; VARIANTS ILE-119; THR-135 AND SER-136;

Wegener's autoantigen decoded.
Jenne D.E.; Tschopp J.; Luedemann J.; Utecht B.; Gross W.L.;
Nature 346:520-520(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-256; PROTEIN SEQUENCE OF 28-48; VARIANTS ILE-119; THR-135 AND SER-136; IDENTITY OF WEGENER'S AUTOANTIGEN WITH PR-3;

A novel form of dipeptidylpeptidase IV found in human serum. Isolation, characterization, and comparison with T lymphocyte membrane dipeptidylpeptidase IV (CD26).
Duke-Cohan J.S.; Morimoto C.; Rocker J.A.; Schlossman S.F.;
J. Biol. Chem. 270:14107-14114(1995)
Cited for: PROTEIN SEQUENCE OF 110-121; VARIANT ILE-119;

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.