IthaID: 3754



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Init CD ATG>AAG [Met>Lys] HGVS Name: HBA2:c.2T>A
Hb Name: N/A Protein Info: α2 Initiation codon Met>Lys

Context nucleotide sequence:
TCCCCACAGACTCAGAGAGAACCCACCA [T/A] GGTGCTGTCTCCTGCCGACAAGACCAAC (Strand: +)

Protein sequence:
KVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in compound heterozygosity with the -α3.7 [IthaID: 300], in a female patient presented with microcytic hypochromic anemia and iron deficiency anemia. Patient father also carried the novel mutation in combination with the -α3.7 and both had typical features of thalassemia and abnormal hematological indices compared with those with αα/-α3.7 genotype.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33777
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

Sequence Viewer

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Publications / Origin

  1. Chen Y, Wang J, Wang C, Chen S, Feng N, Liu H, Tang X, Zhang S, [A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 38(1), 12-14, 2021 PubMed
Created on 2021-03-12 11:59:17, Last reviewed on 2021-03-12 12:00:30 (Show full history)

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