IthaID: 2571

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 109 CTG>CCG [Leu>Pro] HGVS Name: HBA1:c.329T>C
Hb Name: Hb Milano Protein Info: α1 109(G16) Leu>Pro

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Leu>Pro replacement at codon 109 is expected to alter the α1β1 contact, generating unstable α chains that undergo rapid proteolysis. No detection of abnormal haemoglobin by HPLC. Negative isopropanol stability test. Negative for HbH or Heinz inclusion bodies. Deduced as hyperunstable from low abundance. Pathogenicity predicted by in silico analysis. Reported as a heterozygote with mild microcytosis, and in association with an α-thal 3.7 kb (type I) deletion with marked microcythemia and mild anaemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:α⁺
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34363
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Curcio C, Giannone V, Benzoni E, Cesaretti C, Ivaldi G, Hb Milano [α109(G16)Leu→Pro (CG>CG); : c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family., Hemoglobin, 43(1), 4-6, 2019
Created on 2016-01-11 15:41:13, Last reviewed on 2019-07-02 08:47:53 (Show full history)

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