IthaID: 3566
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 24 GGA>GAA [Gly>Glu] | HGVS Name: | HBG2:c.74G>A |
| Hb Name: | Hb F-Wentzville | Protein Info: | N/A |
Context nucleotide sequence:
AAGGTGAATGTGGAAGATGCTG [G>A] AGGAGAAACCCTGGGAAGGTA (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAEGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
Also known as:
Comments: Proband was heterozygous for the variant and required a single transfusion of erythrocytes for haemolytic anaemia early in infancy. Unstable Hb variant by heat stability test. This mutation affects the highly conserved glycine residue at helical position B6 and its replacement with bulkier amino acids disrupts packing between the B and E helices, resulting in Hb instability. The proband was also carrier for a 3'UTR variation of uncertain significance (rs575079820).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | γ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 42961 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Semkiu KM, Oliveira JL, Nguyen PL, Porter TR, Wilson DB, Hb F-Wentzville [γ24(B6)Gly→Glu; : c.74G>A, p.Gly25Glu]: An Unstable γ-Globin Variant Associated with Neonatal Hemolytic Anemia., Hemoglobin, 2020