IthaID: 4105


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD112 TGT>TCT [Cys>Ser] HGVS Name: HBB:c.338G>C
Hb Name: Hb Jiangxi Protein Info: N/A

Context nucleotide sequence:
CAGCTCCTGGGCAACGTGCTGGTCT [G>C] TGTGCTGGCCCATCACTTTGGCAAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVSVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The c.338G>C variant (Hb Jiangxi) is a missense mutation in the HBB gene, resulting in the substitution of cytosine (TGT) with serine (TCT) at position β112(G14). Initially reported in a heterozygous state in a 29-year-old female from China, this variant was associated with normal hematological indices (Hb 116 g/L, MCV 88.2 fL, MCH 29.7 pg, RBC 3.91E12/L) and hemoglobin fractions of HbA 95.9%, HbF 1.1%, and HbA2 3.0% as determined by capillary electrophoresis (CE). The abnormal hemoglobin variant could not be separated by CE electrophoresis (Capillarys 3 TERA) or HPLC (Bio-Rad D-100) but was detected using MALDI-TOF MS.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71912
Size: 1 bp
Located at: β
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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Xu, Anping2024-07-24First report.
Created on 2024-07-25 13:57:56, Last reviewed on 2024-07-25 14:01:03 (Show full history)

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