IthaID: 4038


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 99 GAT>GGT [Asp>Gly] HGVS Name: HBD:c.299A>G
Hb Name: Hb A2-Wanxian Protein Info: N/A

Context nucleotide sequence:
CTGCACTGTGACAAGCTGCACGTGG [A>G] TCCTGAGAACTTCAGGGTGAGTCC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVGPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: It was found in a 50-year-old male from Wanxian City, Sichuan Province, China, who had normal hematological parameters.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63609
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Xu A, Li M, Ye Y, Li L, Ma M, Wu SY, Ji L, Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants., Int J Lab Hematol, 45(6), 961-968, 2023

Microattributions

A/AContributor(s)DateComments
1Xu, Anping2023-06-20First report.
Created on 2023-06-26 11:42:50, Last reviewed on 2024-03-12 11:35:58 (Show full history)

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