IthaID: 3748



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 124 TCC>ACC [Ser>Thr] HGVS Name: HBA2:c.373T>A
Hb Name: Hb Huaduo Protein Info: α2 124(H7) Ser>Thr

Context nucleotide sequence:
CGAGTTCACCCCTGCGGTGCACGCC [T/A] CCCTGGACAAGTTCCTGGCTTCTGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHATLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in compound heterozygosity with the CD 41/42 (-CTTT) [IthaID: 147] in a 36-year old Chinese male presented with microcytosis MCV 59.4 fL, decreased MCH 18.8 pg, Hb 14.1 g/dL and RBC 7.52×1012/L. Capillary electrophoresis shown that HbX and HbA are not completely separated but double peaks are visible with the capillary 2 Flex Piercing device. The electrophoresis position of HbX and HbX-A2 is located at Z10-Z9 and Z2 zone respectively and the hemoglobin levels were HbX-HbA 94.1 %, HbX-HbA2 0.7 %, HbF 0 %, HbA2 5.2 %.

External Links

No available 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: 34407
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-02-24First report.
Created on 2021-02-24 14:21:18, Last reviewed on 2021-02-24 14:23:08 (Show full history)

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