IthaID: 3604



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Init CD ATG>GTG [Met>Pro] HGVS Name: HBA2:c.1A>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCCACAGACTCAGAGAGAACCCACC [A/G] TGGTGCTGTCTCCTGCCGACAAGAC (Strand: +)

Protein sequence:
PVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 25-year old Chinese man presented with mild anaemia. This mutation in combination with the Southeast Asian --SEA deletion [IthaID:309] found in proband’s unborn child. The fetal cord blood showed a peak for Hb Barts indicating that the fetus had Hb H disease.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33776
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Chen X, Luo S, Huang J, Yuan D, Yan T, Cai R, Tang N, Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene : c.1A>G Mutation., Hemoglobin, 44(1), 51-54, 2020 PubMed
Created on 2020-07-15 08:28:56, Last reviewed on 2020-07-15 08:33:37 (Show full history)

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