IthaID: 3489



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 42 TAC>GAC [Tyr>Asp] HGVS Name: HBA2:c.127T>G
Hb Name: Hb Huaxi Protein Info: N/A

Context nucleotide sequence:
CCTGTCCTTCCCCACCACCAAGACC [T>G] ACTTCCCGCACTTCGACCTGAGCCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTDFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34019
Size: 1 bp
Located at: α2
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: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zeng Y, Huang S., The studies of hemoglobinopathies and thalassemia in China--the experiences in Shanghai Institute of Medical Genetics., Clin Chim Acta., 313(0), 107-111, 2001 PubMed
Created on 2019-11-15 13:53:24, Last reviewed on (Show full history)

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