IthaID: 3490


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 131 CAG>GAG [Gln>Glu] HGVS Name: HBD:c.394C>G
Hb Name: Hb A2-Puer Protein Info: N/A

Context nucleotide sequence:
CCCACAAATGCAGGCTGCCTAT [C>G] AGAAGGTGGTGGCTGGTGTG (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYEKVVAGVANALAHKYH

Also known as:

Comments: Reported in one person throughout the Yunnan province during screening for Hb variants (n=41,933).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 64602
Size: 1 bp
Located at: δ
Specific Location: Exon 3

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: No

In silico pathogenicity prediction

Publications / Origin

  1. Zhang J, Li P, Yang Y, Yan Y, Zeng X, Li D, Chen H, Su J, Zhu B, Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China., Sci Rep, 9(1), 8264, 2019
Created on 2019-11-15 14:08:34, Last reviewed on 2019-11-19 17:10:09 (Show full history)

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