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).

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:
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

Publications / Origin

  1. 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
Created on 2020-02-03 09:07:54, Last reviewed on 2021-06-14 13:16:57 (Show full history)

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