BIOMAT Database Logo BIOMAT Database Logo

HLA-C*07:985:01:02Q, a novel allele with an acceptor splice site mutation. 2023

Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.

HLA-C*07:985:01:02Q differs from HLA-C*07:985:01 by one nucleotide substitution at the Intron 1 splicing acceptor site.

UI MeSH Term Description Entries
D007438 Introns Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes. Intervening Sequences,Sequences, Intervening,Intervening Sequence,Intron,Sequence, Intervening
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D012326 RNA Splicing The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. RNA, Messenger, Splicing,Splicing, RNA,RNA Splicings,Splicings, RNA
D015236 HLA-C Antigens Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma). Antigens, HLA-C,HLA-C,Antigens, HLA C,HLA C Antigens

Related Publications

Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
A novel HLA-C allele, HLA-C*07:02:01:17N, with an alternative splice site.
April 2018, HLA,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
HLA-DQA1*03:03:01:16Q, a novel allele with an acceptor splice site mutation.
November 2021, HLA,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
Characterization of a novel HLA-C*07 allele, HLA-C*07:56:01.
March 2013, Tissue antigens,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
A single nucleotide deletion in exon 3 of the HLA-C*07:02:01:01 allele produces a novel HLA-C*07 null allele, HLA-C*07:393N.
June 2015, Tissue antigens,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
HLA-C*07:1044N a novel allele, caused by a single nucleotide deletion in exon 3 of HLA-C*07:01:01:01.
June 2023, HLA,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
Discovery of the novel HLA-C*07:1052 allele, a variant of HLA-C*07:02:01:01, in a Greek individual.
October 2023, HLA,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
A novel allele, HLA-C*07:01:01:30 identified using third-generation sequencing.
November 2019, HLA,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
Identification of a novel HLA-DRB1*07 allele, HLA-DRB1*07:01:19.
June 2016, HLA,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
[Identification of a novel HLA allele HLA-DRB1*09:01:07].
October 2014, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
Naomi Kessler, and Heather Casey, and Jennifer Tyler, and Carrie Mowery, and Hiroko Shike
A novel HLA-C*01 variant allele, HLA-C*01:38.
January 2011, Tissue antigens,
Copied contents to your clipboard!