IthaID: 1124



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 95/96 (+15 bp) HGVS Name: HBB:c.274_288dup
Hb Name: Hb Koriyama Protein Info: Leu-His-Cys-Asp-Lys- inserted between codons 95(FG2) and 96(FG3) of β

Also known as:

Comments: Found in a Japanese girl with very severe, chronic hemolytic anemia. The unstable hemoglobin caused by a 15-bp duplication involving 5 tandemly repeated amino acids.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70998
Size: 15 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Kawata R, Ohba Y, Yamamoto K, Miyaji T, Makita R, Ohga K, Watanabe S, Miwa S, Hyperunstable hemoglobin Koriyama anti-Hb Gun Hill insertion of five residues in the beta chain., Hemoglobin, 12(4), 311-21, 1988 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-05-04 13:14:56 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.