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HLA-C*12:475: A Novel HLA-C Allele Encoding a Signal Peptide Amino Acid Substitution
Emerson Fernando Garcia Machado1,2, Josiane Aparecida Linhares1, Maria Eduarda Dugonski1
1Laboratory of Immunogenetics, Cajuru University Hospital, Curitiba, Parana, Brazil.
HLA
|August 4, 2026
Summary
A novel Human Leukocyte Antigen C allele, HLA-C*12:475, has been identified. It differs from a known allele by a single genetic mutation in exon 1.
Area of Science:
- Immunogenetics
- Molecular Biology
Background:
- The Human Leukocyte Antigen (HLA) system is crucial for immune response.
- Polymorphisms in HLA genes, including HLA-C, influence immune system diversity.
Purpose of the Study:
- To characterize a newly identified HLA-C allele.
- To detail the specific genetic difference between the novel and a known HLA-C allele.
Main Methods:
- Sequence analysis of the HLA-C gene.
- Comparison of nucleotide sequences between different HLA-C alleles.
Main Results:
- A novel HLA-C allele, designated HLA-C*12:475, was discovered.
- This new allele differs from HLA-C*12:03:01:01 by a single nonsynonymous substitution located in exon 1.
Conclusions:
- The identification of HLA-C*12:475 expands the known HLA-C allele repertoire.
- This genetic variation may have implications for immune system function and disease susceptibility.
