IthaID: 3969

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 44 TCC>TTC [Ser>Phe] HGVS Name: HBB:c.134C>T
Hb Name: Hb Narges Lab Protein Info: β 44(CD3) Ser>Phe

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a case presented with no hematological abnormalities. The variant was predicted to be disease-causing in all except one in silico prediction tools.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70858
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Hamid M, Shahbazi Z, Keikhaei B, Galehdari H, Saberi A, Sedaghat A, Shariati G, Mohammadi-Anaei M, Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene., Arch Iran Med, 25(5), 339-342, 2022 PubMed
Created on 2022-09-07 14:50:28, Last reviewed on (Show full history)

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