IthaID: 3406

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 69 GGT>GAT [Gly>Asp]	HGVS Name:	HBD:c.209G>A
Hb Name:	Hb A2-Gebenstorf	Protein Info:	δ 69(E13) Gly>Asp

Context nucleotide sequence:
GGCTCATGGCAAGAAGGTGCTAG [G/A] TGCCTTTAGTGATGGCCTGGCT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLDAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The δ-globin variant was found in a heterozygous state in a mother and her daughter of Swiss origin. The mother presented with normal blood counts and reduced HbA2 level (Hb 14.9 g/dL, MCV 89.9 fL, MCH 29.5 pg, HbA2 1.2%, HbF 0.5%). The daughter was also carrier of a deletional (εγ)δβ0-thal [ithaID=3606], presenting with a beta-thalassaemia minor phenotype (Hb 10.6 g/dL, MCV 61.0 fL, MCH 18.2 pg, HbA2 0%, HbF 0.7%). Variant was detected by HPLC; it is expected to move faster than HbA2 and thus to co-migrate with HbA.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	63519
Size:	1 bp
Located at:	δ
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Saller E, Knijnenburg J, Harteveld CL, Dutly F, A Woman with Missing Hb A Due to a Novel (εγ)δβ-Thalassemia and a Novel δ-Globin Variant Hb A-Gebenstorf (: c.209G>A)., Hemoglobin, 44(3), 214-217, 2020 PubMed

Created on 2019-04-12 13:48:54, Last reviewed on 2020-08-06 16:38:37 (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-04-12 13:48:54	The IthaGenes Curation Team	Created
2	2020-08-06 16:38:37	The IthaGenes Curation Team	Reviewed. Reference and Comment added.

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