IthaID: 86


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 24 GGT>GGA [Gly>Gly] HGVS Name: HBB:c.75T>A
Hb Name: N/A Protein Info: β 24(B6) Gly>Gly

Context nucleotide sequence:
GCAAGGTGAACGTGGATGAAGTTGG [A/G/T] GGTGAGGCCCTGGGCAGGTTGGTAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β++
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70669
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing)
Ethnic Origin: African-American, Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Goldsmith ME, Humphries RK, Ley T, Cline A, Kantor JA, Nienhuis AW, "Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA., Proceedings of the National Academy of Sciences of the United States of America, 80(8), 2318-22, 1983
  2. Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC, Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States., Blood, 72(3), 1007-14, 1988
  3. Hattori Y, Yamane A, Yamashiro Y, Matsuno Y, Yamamoto K, Yamamoto K, Ohba Y, Miyaji T, Characterization of beta-thalassemia mutations among the Japanese., Hemoglobin, 13(7), 657-70, 1989
Created on 2010-06-16 16:13:14, Last reviewed on 2024-03-07 11:19:43 (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.