IthaID: 3841



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 15 GGT>AGT [Gly>Ser] HGVS Name: HBA2:c.46G>A
Hb Name: Hb Nanchang Protein Info: N/A

Context nucleotide sequence:
CAAGACCAACGTCAAGGCCGCCTGG [G/A] GTAAGGTCGGCGCGCACGCTGGCGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWSKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 7-year-old female presented with Hb 12.0 g/dL, RBC 4.79×10^12/L, MCV 76.4 fL, MCH 25.7 pg and MCHC 33.3 g/L. Capillary electrophoresis shown normal levels of HbA 97.3%, HbA2 2.7%. Also detected in a 33-year-old female by MALDI-TOF MS via the sufficient mass difference between the wild and variant globin chains.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, 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: 33821
Size: 1 bp
Located at: α2
Specific Location: Exon 1

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: Yes

Sequence Viewer

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Publications / Origin

  1. Xu A, Chen W, Xie W, Zheng H, Zhou Y, Ji L, A Novel α-Globin Chain Variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (Gly→Ser)], Detected by Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry., Hemoglobin, 2021 PubMed

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-07-29First report.
Created on 2021-07-30 12:47:10, Last reviewed on 2021-10-14 09:49:02 (Show full history)

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