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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N6Q3: Variant p.Leu119Phe

CD177 antigen
Gene: CD177
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Variant information Variant position: help 119 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 Leucine (L) to Phenylalanine (F) at position 119 (L119F, p.Leu119Phe). 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 medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 There is a significant association between the variants Ala-3, Leu-251 and Thr-348 and a low expression of CD177 on neutrophils (PubMed:12623849, PubMed:14692971). Expression of CD177 on neutrophils is a trait determined by ratio of CD177/CD177P1 alleles (PubMed:27227454). The phenotype of CD177 null neutrophils is due to recombination between exon 7 of CD177 and the pseudogene CD177P1 through gene conversion, changing Lys-263 codon into stop codon (PubMed:27227454). The lack of CD177 expression affects 1-10 percent of the population placing them at risk for formation of anti-neutrophil antibodies that can cause transfusion-related acute lung injury and neonatal alloimmune neutropenia. Additional information on the polymorphism described.


Sequence information Variant position: help 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 437 The length of the canonical sequence.
Location on the sequence: help SYTFVCRQEDFCNNLVNSLP L WAPQPPADPGSLRCPVCLSM 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                         SYTFVCRQEDFCNNLVNSLPLWAPQPPADPGSLRCPVCLSM

Mouse                         SYTRVCRKKDFCNDLSTTAPLWAPPPVTAPGTTRCPLCFSE

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 22 – 408 CD177 antigen



Literature citations
Molecular basis of the neutrophil glycoprotein NB1 (CD177) involved in the pathogenesis of immunenneutropenia and transfusion reactions.
Kissel K.; Santoso S.; Hofmann C.; Stroncek D.; Bux J.;
Eur. J. Immunol. 31:1301-1309(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 35-45; 167-175 AND 386-393; VARIANTS PRO-3; PHE-119; ILE-251; GLN-323 AND SER-379; MASS SPECTROMETRY; GLYCOSYLATION; CD177 polymorphisms: correlation between high-frequency single nucleotide polymorphisms and neutrophil surface protein expression.
Caruccio L.; Walkovich K.; Bettinotti M.; Schuller R.; Stroncek D.;
Transfusion 44:77-82(2004)
Cited for: VARIANTS PRO-3; PHE-119; GLN-323 AND SER-379; POLYMORPHISM;
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.