IthaID: 3719



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Init CD ATG>ACG [Met>Thr] HGVS Name: HBA1:c.2T>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCCACAGACTCAGAGAGAACCCACCA [T/C] GGTGCTGTCTCCTGCCGACAAGACCA (Strand: +)

Protein sequence:
TVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 37-year old Chinese woman presented with slightly reduced Hb 10.4 g/dL, MCV 77.2 fL and MCH 25.7 pg.

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: 37581
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

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

Sequence Viewer

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Publications / Origin

  1. Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019 PubMed
Created on 2021-01-30 14:42:24, Last reviewed on 2021-02-01 11:31:26 (Show full history)

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