IthaID: 3747


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 59 AAG>ATG [Lys>Met] HGVS Name: HBB:c.179A>T
Hb Name: Hb Dahua Protein Info: β 59(E3) Lys>Met

Context nucleotide sequence:
CCTGATGCTGTTATGGGCAACCCTA [A/T] GGTGAAGGCTCATGGCAAGAAAGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPMVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: 70903
Size: 1 bp
Located at: β
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. Qin YY, Huang XJ, Ma YL, Qin JX, Liang L, Li YQ, Hb Dahua [β59(E3)Lys→Met; : c.179A>T] a Novel Variant on the β-Globin Gene., Hemoglobin, 2021

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-02-20First report.
Created on 2021-02-22 10:57:05, Last reviewed on 2022-09-15 12:24:31 (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.