IthaID: 3794

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 3 (CTG>AAG) [Leu>Lys] HGVS Name: HBB:c.10_11delinsAA
Hb Name: Hb Jiangnan Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The Hb variant separated by HPLC but co-eluted with HbF by the CE (HbF+HbX 31.8%).

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: 70604
Size: 2 bp
Located at: β
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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Liang L, Ning S, Lu X, Li Y, Tian M, Qin T, Li Y, A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, :c.10-_11delinsAA] causing elevated Hb A level., Hematology, 27(1), 772-777, 2022 PubMed


1Li, Youqiong2021-06-03First report.
Created on 2021-06-07 12:11:01, Last reviewed on 2022-08-01 10:36:55 (Show full history)

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